nsv5531627
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,393
- Publication(s):Byrska-Bishop et al. 2022
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: 160 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5531627 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 41,806,271 | 41,816,663 | ||
| nsv5531627 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000019.9 | Chr19 | 42,310,312 | 42,320,699 |
| nsv5531627 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 375,310 | 385,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17723535 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17723535 | Submitted genomic | NC_000019.10:g.418 06271_41816663del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 41,806,271 | 41,816,663 | ||
| nssv17723535 | Remapped | Perfect | NW_004775434.1:g.3 75310_385702del | GRCh37.p13 | First Pass | NW_004775434.1 | Chr19|NW_0 04775434.1 | 375,310 | 385,702 |
| nssv17723535 | Remapped | Good | NC_000019.9:g.4231 0312_42320699del | GRCh37.p13 | Second Pass | NC_000019.9 | Chr19 | 42,310,312 | 42,320,699 |
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) |
|---|---|---|---|
| nssv17723535 | <0.001 | 2 | 6404 |