nsv6293996
- 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:32,001
- Description:nsv5419415 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: 644 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 641 SVs from 61 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6293996 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,541,606 | 155,573,606 |
nsv6293996 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,771,267 | 154,803,267 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17966060 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17966060 | Remapped | Perfect | NC_000023.11:g.155 541606_155573606de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,541,606 | 155,573,606 |
nssv17966060 | Submitted genomic | NC_000023.10:g.154 771267_154803267de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,771,267 | 154,803,267 |
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) |
---|---|---|---|
nssv17966060 | 0.013 | 53 | 3972 |