nsv4634381
- 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:3,966
- Description:esv3842662 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: 305 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4634381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 150,798,074 | 150,802,039 |
nsv4634381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 150,177,636 | 150,181,601 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16192440 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16192440 | Remapped | Perfect | NC_000005.10:g.150 798074_150802039de l | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 150,798,074 | 150,802,039 |
nssv16192440 | Submitted genomic | NC_000005.9:g.1501 77636_150181601del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 150,177,636 | 150,181,601 |
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) |
---|---|---|---|
nssv16192440 | 0.182 | 911 | 5008 |