nsv4634386
- 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:27,987
- Description:esv3890370 from 1000 Genomes Consortium Phase 3 Integrated SV. 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: 365 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 355 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4634386 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 149,722,190 | 149,750,176 |
nsv4634386 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 148,803,850 | 148,831,837 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16183118 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16183118 | Remapped | Good | NC_000023.11:g.149 722190_149750176de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 149,722,190 | 149,750,176 |
nssv16183118 | Submitted genomic | NC_000023.10:g.148 803850_148831837de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 148,803,850 | 148,831,837 |
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) |
---|---|---|---|
nssv16183118 | 0.04 | 47 | 2542 |