nsv6125474
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:92
- Description:nsv5545631 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: 1043 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 1043 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6125474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,486,323 | 22,486,414 |
| nsv6125474 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 121,980 | 122,071 |
| nsv6125474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,840,665 | 22,840,756 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17960284 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17960284 | Remapped | Perfect | NT_187629.1:g.1219 80_122071del | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 121,980 | 122,071 |
| nssv17960284 | Remapped | Perfect | NC_000022.11:g.224 86323_22486414del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,486,323 | 22,486,414 |
| nssv17960284 | Submitted genomic | NC_000022.10:g.228 40665_22840756del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,840,665 | 22,840,756 |
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) |
|---|---|---|---|
| nssv17960284 | 0.019 | 119 | 6396 |