nsv6628092
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52,172
- 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: 1218 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 1214 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,054,438 | 242,106,609 |
| nsv6628092 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 98,508 | 150,679 |
| nsv6628092 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 98,148 | 150,319 |
| nsv6628092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,996,589 | 243,048,760 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18296343 | deletion | OSC4628 | SNP array | Probe signal intensity | nssv18296345, nssv18296344, nssv18296342 |
| nssv18323373 | deletion | OSC1457 | SNP array | Probe signal intensity | nssv18322452, nssv18322825, nssv18323094 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18296343 | Remapped | Perfect | NT_187647.1:g.(?_9 8148)_(150319_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 98,148 | 150,319 |
| nssv18323373 | Remapped | Perfect | NT_187647.1:g.(?_9 8148)_(150319_?)de l | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 98,148 | 150,319 |
| nssv18296343 | Remapped | Perfect | NT_187523.1:g.(?_9 8508)_(150679_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 98,508 | 150,679 |
| nssv18323373 | Remapped | Perfect | NT_187523.1:g.(?_9 8508)_(150679_?)de l | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 98,508 | 150,679 |
| nssv18296343 | Remapped | Perfect | NC_000002.12:g.(?_ 242054438)_(242106 609_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,054,438 | 242,106,609 |
| nssv18323373 | Remapped | Perfect | NC_000002.12:g.(?_ 242054438)_(242106 609_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,054,438 | 242,106,609 |
| nssv18296343 | Submitted genomic | NC_000002.11:g.(?_ 242996589)_(243048 760_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,996,589 | 243,048,760 | ||
| nssv18323373 | Submitted genomic | NC_000002.11:g.(?_ 242996589)_(243048 760_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,996,589 | 243,048,760 |