nsv6911491
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:165,283
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: 433 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6911491 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 49,910,536 | 50,075,818 | ||
| nsv6911491 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000011.9 | Chr11 | 49,932,088 | 50,039,359 |
| nsv6911491 | Remapped | Good | GRCh37.p13 | PATCHES | First Pass | NW_003571045.1 | Chr11|NW_0 03571045.1 | 69,441 | 234,709 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18586413 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18586413 | Submitted genomic | NC_000011.10:g.499 10536_50075818dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 49,910,536 | 50,075,818 | ||
| nssv18586413 | Remapped | Good | NW_003571045.1:g.6 9441_234709dup | GRCh37.p13 | First Pass | NW_003571045.1 | Chr11|NW_0 03571045.1 | 69,441 | 234,709 |
| nssv18586413 | Remapped | Pass | NC_000011.9:g.4993 2088_50039359dup | GRCh37.p13 | Second Pass | NC_000011.9 | Chr11 | 49,932,088 | 50,039,359 |
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) |
|---|---|---|---|
| nssv18586413 | 4e-06 | 1 | 274832 |