nsv4663051
- 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:31,515
- Description:nsv4582769 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: 397 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 52 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4663051 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 177,959,868 | 177,991,382 |
nsv4663051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 178,824,595 | 178,856,109 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16183473 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16183473 | Remapped | Perfect | NC_000002.12:g.(?_ 177959868)_(177991 382_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 177,959,868 | 177,991,382 |
nssv16183473 | Submitted genomic | NC_000002.11:g.(?_ 178824595)_(178856 109_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 178,824,595 | 178,856,109 |
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) |
---|---|---|---|
nssv16183473 | 0.028 | 24 | 845 |