nsv4367016
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,917
- Publication(s):Zarrei et al. 2019
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: 692 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 692 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4367016 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 197,432,717 | 197,485,229 |
| nsv4367016 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 73,652 | 127,568 |
| nsv4367016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 197,159,588 | 197,212,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15623156 | copy number gain | 1-0224-001 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15623156 | Remapped | Good | NT_187534.1:g.(?_7 3652)_(127568_?)du p | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 73,652 | 127,568 |
| nssv15623156 | Remapped | Perfect | NC_000003.12:g.(?_ 197432717)_(197485 229_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,432,717 | 197,485,229 |
| nssv15623156 | Submitted genomic | NC_000003.11:g.(?_ 197159588)_(197212 100_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 197,159,588 | 197,212,100 |