nsv4610879
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,686
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: 242 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4610879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 125,770,911 | 125,802,596 |
nsv4610879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 127,459,480 | 127,491,165 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16124169 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16124169 | Remapped | Perfect | NC_000010.11:g.(?_ 125770911)_(125802 596_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 125,770,911 | 125,802,596 |
nssv16124169 | Submitted genomic | NC_000010.10:g.(?_ 127459480)_(127491 165_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 127,459,480 | 127,491,165 |
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) |
---|---|---|---|
nssv16124169 | <0.001 | 1 | 5919 |