nsv6114998
- 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:2,569
- Description:nsv5421414 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: 1319 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 627 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 1228 SVs from 81 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6114998 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 46,102,373 | 46,104,941 |
| nsv6114998 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 804,478 | 807,046 |
| nsv6114998 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,179,739 | 44,182,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17958023 | copy number variation | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17958023 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 804,478 | 807,046 |
| nssv17958023 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 46,102,373 | 46,104,941 |
| nssv17958023 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,179,739 | 44,182,307 |
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) |
|---|---|---|---|
| nssv17958023 | 0.429 | 558 | 1300 |