nsv6450925
- 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:1,900
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: 94 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6450925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 99,905,401 | 99,907,300 | ||
nsv6450925 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 102,667,683 | 102,669,582 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18233941 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18233941 | Submitted genomic | NC_000009.12:g.999 05401_99907300dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 99,905,401 | 99,907,300 | ||
nssv18233941 | Remapped | Perfect | NC_000009.11:g.102 667683_102669582du p | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 102,667,683 | 102,669,582 |
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) |
---|---|---|---|
nssv18233941 | <0.001 | 3 | 38370 |