nsv4648027
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,593
- Description:esv3852731 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4821100 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 270 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 270 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4648027 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,634,799 | 11,637,391 |
| nsv4648027 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 | 1,713,235 |
| nsv4648027 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,492,308 | 11,494,900 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16182310 | deletion | Curated | Curated |
| nssv16874709 | deletion | Curated | Curated |
| nssv16885832 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16182310 | Remapped | Perfect | NW_018654717.1:g.1 710643_1713235del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 | 1,713,235 |
| nssv16874709 | Remapped | Perfect | NW_018654717.1:g.1 710643_1713235del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 | 1,713,235 |
| nssv16885832 | Remapped | Perfect | NW_018654717.1:g.1 710643_1713235del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 | 1,713,235 |
| nssv16182310 | Remapped | Perfect | NC_000008.11:g.116 34799_11637391del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,634,799 | 11,637,391 |
| nssv16874709 | Remapped | Perfect | NC_000008.11:g.116 34799_11637391del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,634,799 | 11,637,391 |
| nssv16885832 | Remapped | Perfect | NC_000008.11:g.116 34799_11637391del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,634,799 | 11,637,391 |
| nssv16182310 | Submitted genomic | NC_000008.10:g.114 92308_11494900del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,492,308 | 11,494,900 | ||
| nssv16874709 | Submitted genomic | NC_000008.10:g.114 92308_11494900del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,492,308 | 11,494,900 | ||
| nssv16885832 | Submitted genomic | NC_000008.10:g.114 92308_11494900del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,492,308 | 11,494,900 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16182310 | 0.042 | 210 | 5008 |
| nssv16874709 | 0.061 | 1033 | 16834 |
| nssv16885832 | 0.056 | 1636 | 29246 |