nsv5388427
- 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:1,196
- Description:nsv4973593 from Abel et. al 2020 and nsv5485908 from Byrska-Bishop et. al 2021. 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: 106 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5388427 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 44,927,493 | 44,928,688 |
| nsv5388427 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 45,422,941 | 45,424,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872077 | duplication | Curated | Curated |
| nssv16878927 | duplication | Curated | Curated |
| nssv17657039 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872077 | Remapped | Perfect | NC_000010.11:g.449 27493_44928688dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,927,493 | 44,928,688 |
| nssv16878927 | Remapped | Perfect | NC_000010.11:g.449 27493_44928688dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,927,493 | 44,928,688 |
| nssv17657039 | Remapped | Perfect | NC_000010.11:g.449 27493_44928688dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 44,927,493 | 44,928,688 |
| nssv16872077 | Submitted genomic | NC_000010.10:g.454 22941_45424136dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,422,941 | 45,424,136 | ||
| nssv16878927 | Submitted genomic | NC_000010.10:g.454 22941_45424136dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,422,941 | 45,424,136 | ||
| nssv17657039 | Submitted genomic | NC_000010.10:g.454 22941_45424136dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 45,422,941 | 45,424,136 |
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) |
|---|---|---|---|
| nssv16872077 | 0.277 | 4657 | 16834 |
| nssv16878927 | 0.28 | 8191 | 29246 |
| nssv17657039 | 0.012 | 80 | 6404 |