nsv6123022
- 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:452
- Description:nsv5496136 from Byrska-Bishop et. al 2021. 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: 121 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6123022 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 128,647,724 | 128,648,175 |
nsv6123022 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 129,132,269 | 129,132,720 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17962510 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17962510 | Remapped | Perfect | NC_000012.12:g.128 647724_128648175de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 128,647,724 | 128,648,175 |
nssv17962510 | Submitted genomic | NC_000012.11:g.129 132269_129132720de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 129,132,269 | 129,132,720 |
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) |
---|---|---|---|
nssv17962510 | 0.038 | 242 | 6404 |