nsv6974490
- 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:3,782
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: 456 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6974490 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,484,963 | 105,488,744 | ||
| nsv6974490 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000014.8 | Chr14 | 105,951,300 | 105,955,081 |
| nsv6974490 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 148,130 | 151,911 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18383956 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18383956 | Submitted genomic | NC_000014.9:g.1054 84963_105488744del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,484,963 | 105,488,744 | ||
| nssv18383956 | Remapped | Perfect | NW_004166863.1:g.1 48130_151911del | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 148,130 | 151,911 |
| nssv18383956 | Remapped | Perfect | NC_000014.8:g.1059 51300_105955081del | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 105,951,300 | 105,955,081 |
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) |
|---|---|---|---|
| nssv18383956 | 4e-06 | 1 | 275802 |