nsv4727103
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv4685189 from Lee et. al 2020 and nsv5535407 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: 113 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727103 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 31,657,166 | 31,657,166 |
| nsv4727103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 31,696,780 | 31,696,780 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16252443 | insertion | Curated | Curated |
| nssv17652485 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252443 | Remapped | Perfect | NC_000007.14:g.316 57166_31657167ins? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 31,657,166 | 31,657,166 |
| nssv17652485 | Remapped | Perfect | NC_000007.14:g.316 57166_31657167ins? | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 31,657,166 | 31,657,166 |
| nssv16252443 | Submitted genomic | NC_000007.13:g.316 96780_31696781ins? | GRCh37 (hg19) | NC_000007.13 | Chr7 | 31,696,780 | 31,696,780 | ||
| nssv17652485 | Submitted genomic | NC_000007.13:g.316 96780_31696781ins? | GRCh37 (hg19) | NC_000007.13 | Chr7 | 31,696,780 | 31,696,780 |
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) |
|---|---|---|---|
| nssv16252443 | 0.952 | 3917 | 4116 |
| nssv17652485 | 0.069 | 439 | 6404 |