nsv4385187
- 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: 4106 SVs from 102 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: 3974 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385187 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nsv4385187 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nsv4385187 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616026 | copy number loss | 1-0139-005 | SNP array | Genotyping | 16 |
| nssv15617836 | copy number gain | 1-0853-003 | SNP array | Genotyping | 22 |
| nssv15621264 | copy number loss | 1-0989-004 | SNP array | Genotyping | 15 |
| nssv15643491 | copy number loss | 16-1013-001 | SNP array | Genotyping | 25 |
| nssv15666371 | copy number loss | 7-0076-003 | SNP array | Genotyping | 22 |
| nssv15682211 | copy number gain | 222684 | SNP array | Genotyping | 25 |
| nssv15700301 | copy number loss | 200517 | SNP array | Genotyping | 20 |
| nssv15702839 | copy number loss | 200764 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616026 | 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 |
| nssv15617836 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15621264 | 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 |
| nssv15643491 | 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 |
| nssv15666371 | 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 |
| nssv15682211 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15700301 | 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 |
| nssv15702839 | 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 |
| nssv15616026 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15617836 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15621264 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15643491 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15666371 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15682211 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15700301 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15702839 | Remapped | Pass | NC_000014.9:g.(?_1 06112755)_(1062715 53_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,112,755 | 106,271,553 |
| nssv15616026 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15617836 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15621264 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15643491 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15666371 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15682211 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15700301 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 | ||
| nssv15702839 | Submitted genomic | NC_000014.8:g.(?_1 06536991)_(1067281 49_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,536,991 | 106,728,149 |