nsv6524442
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,051
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: 130 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6524442 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 49,288,581 | 49,317,631 | ||
nsv6524442 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 49,791,838 | 49,820,888 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18047145 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18047145 | Submitted genomic | NC_000019.10:g.492 88581_49317631del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 49,288,581 | 49,317,631 | ||
nssv18047145 | Remapped | Perfect | NC_000019.9:g.4979 1838_49820888del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 49,791,838 | 49,820,888 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv18047145 | <0.001 | 3 | 39254 |