nsv6381005
- 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:139,191
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: 553 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 553 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6381005 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 16,113,562 | 16,252,752 | ||
nsv6381005 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 16,113,671 | 16,252,861 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18215940 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18215940 | Submitted genomic | NC_000005.10:g.161 13562_16252752dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 16,113,562 | 16,252,752 | ||
nssv18215940 | Remapped | Perfect | NC_000005.9:g.1611 3671_16252861dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 16,113,671 | 16,252,861 |
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) |
---|---|---|---|
nssv18215940 | <0.001 | 1 | 39266 |