nsv6628089
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,510
- Publication(s):Zarrei et al. 2023
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: 1693 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 824 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 822 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1693 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628089 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,001,416 | 242,026,550 |
| nsv6628089 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 40,111 | 70,620 |
| nsv6628089 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 40,111 | 70,261 |
| nsv6628089 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,943,567 | 242,968,701 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18314858 | deletion | OSC8027 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18314858 | Remapped | Pass | NT_187647.1:g.(?_4 0111)_(70261_?)del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 40,111 | 70,261 |
| nssv18314858 | Remapped | Pass | NT_187523.1:g.(?_4 0111)_(70620_?)del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 40,111 | 70,620 |
| nssv18314858 | Remapped | Perfect | NC_000002.12:g.(?_ 242001416)_(242026 550_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,001,416 | 242,026,550 |
| nssv18314858 | Submitted genomic | NC_000002.11:g.(?_ 242943567)_(242968 701_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,943,567 | 242,968,701 |