nsv4628016
- 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:518
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: 115 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4628016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 34,757,098 | 34,757,615 |
nsv4628016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 35,248,003 | 35,248,520 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16149857 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16149857 | Remapped | Perfect | NC_000019.10:g.(?_ 34757098)_(3475761 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 34,757,098 | 34,757,615 |
nssv16149857 | Submitted genomic | NC_000019.9:g.(?_3 5248003)_(35248520 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 35,248,003 | 35,248,520 |
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) |
---|---|---|---|
nssv16149857 | 0.073 | 138 | 1892 |