nsv4671317
- 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:75,154
- Description:nsv4626987 from DECIPHER Consensus CNVs. 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: 1580 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1510 SVs from 93 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4671317 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,948,034 | 19,023,187 |
nsv4671317 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,935,547 | 19,010,700 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16205271 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16205271 | Remapped | Perfect | NC_000022.11:g.(?_ 18948034)_(1902318 7_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,948,034 | 19,023,187 |
nssv16205271 | Submitted genomic | NC_000022.10:g.(?_ 18935547)_(1901070 0_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,935,547 | 19,010,700 |
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) |
---|---|---|---|
nssv16205271 | 0.013 | 6 | 450 |