nsv7148020
- 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:76
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: 169 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 168 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 133,306,121 | 133,306,196 |
| nsv7148020 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646201.1 | Chr9|NW_00 9646201.1 | 132,215 | 132,290 |
| nsv7148020 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000009.11 | Chr9 | 136,181,517 | 136,181,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18840295 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18840295 | Remapped | Perfect | NW_009646201.1:g.1 32215_132290del | GRCh38.p12 | Second Pass | NW_009646201.1 | Chr9|NW_00 9646201.1 | 132,215 | 132,290 |
| nssv18840295 | Remapped | Perfect | NC_000009.12:g.133 306121_133306196de l | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 133,306,121 | 133,306,196 |
| nssv18840295 | Submitted genomic | NC_000009.11:g.136 181517_136181592de l | GRCh37.p13 | NC_000009.11 | Chr9 | 136,181,517 | 136,181,592 |
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) |
|---|---|---|---|
| nssv18840295 | 0.5 | 1 | 2 |