nsv6406749
- 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:35,068
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: 143 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6406749 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 141,284,109 | 141,319,176 | ||
| nsv6406749 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,663,674 | 140,687,716 |
| nsv6406749 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 519,285 | 543,325 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18213388 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18213388 | Submitted genomic | NC_000005.10:g.141 284109_141319176du p | GRCh38 (hg38) | NC_000005.10 | Chr5 | 141,284,109 | 141,319,176 | ||
| nssv18213388 | Remapped | Pass | NW_004775428.1:g.5 19285_543325dup | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 519,285 | 543,325 |
| nssv18213388 | Remapped | Pass | NC_000005.9:g.1406 63674_140687716dup | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,663,674 | 140,687,716 |
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) |
|---|---|---|---|
| nssv18213388 | <0.001 | 1 | 39286 |