nsv4366642
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:711,169
- 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: 5703 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 5594 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5424 SVs from 107 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366642 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nsv4366642 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nsv4366642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613161 | copy number loss | 1-0677-002 | SNP array | Genotyping | 20 |
| nssv15618003 | copy number loss | 1-0879-003 | SNP array | Genotyping | 26 |
| nssv15622052 | copy number loss | 1-1042-003 | SNP array | Genotyping | 25 |
| nssv15631778 | copy number loss | 10-0015-002 | SNP array | Genotyping | 17 |
| nssv15633836 | copy number loss | 10-1149-001 | SNP array | Genotyping | 17 |
| nssv15638417 | copy number loss | 14-0135-003 | SNP array | Genotyping | 22 |
| nssv15650068 | copy number loss | 2-1292-004 | SNP array | Genotyping | 14 |
| nssv15696313 | copy number loss | 158168 | SNP array | Genotyping | 14 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613161 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15618003 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15622052 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15631778 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15633836 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15638417 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15650068 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15696313 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15613161 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15618003 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15622052 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15631778 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15633836 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15638417 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15650068 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15696313 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1063937 66_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,393,766 |
| nssv15613161 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15618003 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15622052 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15631778 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15633836 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15638417 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15650068 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 | ||
| nssv15696313 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1068496 77_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,849,677 |