nsv5389963
- 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:147
- Description:nsv4864760 from Abel et. al 2020 and nsv5531596 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: 134 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389963 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 62,729,923 | 62,730,069 |
| nsv5389963 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 60,807,284 | 60,807,430 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872524 | duplication | Curated | Curated |
| nssv16887430 | duplication | Curated | Curated |
| nssv17958124 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872524 | Remapped | Perfect | NC_000017.11:g.627 29923_62730069dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 62,729,923 | 62,730,069 |
| nssv16887430 | Remapped | Perfect | NC_000017.11:g.627 29923_62730069dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 62,729,923 | 62,730,069 |
| nssv17958124 | Remapped | Perfect | NC_000017.11:g.627 29923_62730069dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 62,729,923 | 62,730,069 |
| nssv16872524 | Submitted genomic | NC_000017.10:g.608 07284_60807430dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 60,807,284 | 60,807,430 | ||
| nssv16887430 | Submitted genomic | NC_000017.10:g.608 07284_60807430dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 60,807,284 | 60,807,430 | ||
| nssv17958124 | Submitted genomic | NC_000017.10:g.608 07284_60807430dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 60,807,284 | 60,807,430 |
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) |
|---|---|---|---|
| nssv16872524 | 0.167 | 4895 | 29246 |
| nssv16887430 | 0.152 | 2561 | 16834 |
| nssv17958124 | 0.239 | 1532 | 6404 |