nsv7146756
- 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:59
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: 436 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7146756 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 353,582 | 353,640 |
| nsv7146756 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 48,998 | 49,056 |
| nsv7146756 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 325,025 | 325,082 |
| nsv7146756 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 203,373 | 203,431 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18840949 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18840949 | Remapped | Perfect | NT_187662.1:g.4899 8_49056del | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 48,998 | 49,056 |
| nssv18840949 | Remapped | Good | NW_003315952.3:g.3 25025_325082del | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 325,025 | 325,082 |
| nssv18840949 | Remapped | Perfect | NC_000017.11:g.353 582_353640del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 353,582 | 353,640 |
| nssv18840949 | Submitted genomic | NC_000017.10:g.203 373_203431del | GRCh37.p13 | NC_000017.10 | Chr17 | 203,373 | 203,431 |
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) |
|---|---|---|---|
| nssv18840949 | 0.5 | 1 | 2 |