nsv5382619
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:439
- Description:nsv4901164 from Abel et. al 2020 and nsv5440494 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 151 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5382619 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 35,934,462 | 35,934,900 |
| nsv5382619 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 36,159,528 | 36,159,966 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16885512 | deletion | Curated | Curated |
| nssv17660162 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16885512 | Remapped | Perfect | NC_000002.12:g.359 34462_35934900del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,934,462 | 35,934,900 |
| nssv17660162 | Remapped | Perfect | NC_000002.12:g.359 34462_35934900del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 35,934,462 | 35,934,900 |
| nssv16885512 | Submitted genomic | NC_000002.11:g.361 59528_36159966del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 36,159,528 | 36,159,966 | ||
| nssv17660162 | Submitted genomic | NC_000002.11:g.361 59528_36159966del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 36,159,528 | 36,159,966 |
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) |
|---|---|---|---|
| nssv16885512 | 0.018 | 515 | 29246 |
| nssv17660162 | 0.576 | 3625 | 6290 |