nsv4646813
- 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:65
- Description:nsv4518124 from gnomAD Structural Variants and nsv5418362 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: 123 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4646813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 46,393,998 | 46,394,062 |
| nsv4646813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 46,859,670 | 46,859,734 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16174452 | duplication | Curated | Curated |
| nssv17662038 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16174452 | Remapped | Perfect | NC_000001.11:g.463 93998_46394062dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 46,393,998 | 46,394,062 |
| nssv17662038 | Remapped | Perfect | NC_000001.11:g.463 93998_46394062dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 46,393,998 | 46,394,062 |
| nssv16174452 | Submitted genomic | NC_000001.10:g.468 59670_46859734dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,859,670 | 46,859,734 | ||
| nssv17662038 | Submitted genomic | NC_000001.10:g.468 59670_46859734dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 46,859,670 | 46,859,734 |
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) |
|---|---|---|---|
| nssv16174452 | 0.012 | 264 | 21600 |
| nssv17662038 | 0.014 | 91 | 6400 |