nsv6516399
- 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:594
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: 81 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6516399 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 2,729,763 | 2,730,356 | ||
nsv6516399 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 2,710,409 | 2,711,002 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18067192 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18067192 | Submitted genomic | NC_000020.11:g.272 9763_2730356del | GRCh38 (hg38) | NC_000020.11 | Chr20 | 2,729,763 | 2,730,356 | ||
nssv18067192 | Remapped | Perfect | NC_000020.10:g.271 0409_2711002del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 2,710,409 | 2,711,002 |
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) |
---|---|---|---|
nssv18067192 | <0.001 | 1 | 35990 |