nsv4669956
- 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:86,843
- Description:esv3887052 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: 1601 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1529 SVs from 95 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4669956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,924,644 | 19,011,486 |
nsv4669956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,912,157 | 18,998,999 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16206183 | copy number gain | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16206183 | Remapped | Perfect | NC_000022.11:g.189 24644_19011486dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,924,644 | 19,011,486 |
nssv16206183 | Submitted genomic | NC_000022.10:g.189 12157_18998999dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,912,157 | 18,998,999 |
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) |
---|---|---|---|
nssv16206183 | 0.014 | 69 | 5008 |