nsv7147824
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89
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: 117 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7147824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 12,940,652 | 12,940,740 |
| nsv7147824 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000019.9 | Chr19 | 13,051,466 | 13,051,554 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18841484 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18841484 | Remapped | Perfect | NC_000019.10:g.129 40652_12940740del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 12,940,652 | 12,940,740 |
| nssv18841484 | Submitted genomic | NC_000019.9:g.1305 1466_13051554del | GRCh37.p13 | NC_000019.9 | Chr19 | 13,051,466 | 13,051,554 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18841484 | 0.5 | 3 | 6 |