nsv4655356
- 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:5,001
- Description:nsv4149995 from gnomAD Structural Variants. 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: 267 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 267 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4655356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 5,975,369 | 5,980,369 |
nsv4655356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,015,000 | 6,020,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16169626 | duplication | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16169626 | Remapped | Perfect | NC_000007.14:g.597 5369_5980369dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 5,975,369 | 5,980,369 |
nssv16169626 | Submitted genomic | NC_000007.13:g.601 5000_6020000dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,015,000 | 6,020,000 |
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) |
---|---|---|---|
nssv16169626 | 0.201 | 4310 | 21398 |