nsv4386115
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:162,841
- 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: 3928 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2560 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 3563 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386115 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,074,229 | 106,237,069 |
| nsv4386115 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 541,998 | 704,838 |
| nsv4386115 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,530,472 | 106,693,682 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15627740 | Remapped | Good | NT_187600.1:g.(?_5 41998)_(704838_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 541,998 | 704,838 |
| nssv15698434 | Remapped | Good | NT_187600.1:g.(?_5 41998)_(704838_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 541,998 | 704,838 |
| nssv15627740 | Remapped | Good | NC_000014.9:g.(?_1 06074229)_(1062370 69_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,074,229 | 106,237,069 |
| nssv15698434 | Remapped | Good | NC_000014.9:g.(?_1 06074229)_(1062370 69_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,074,229 | 106,237,069 |
| nssv15627740 | Submitted genomic | NC_000014.8:g.(?_1 06530472)_(1066936 82_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,530,472 | 106,693,682 | ||
| nssv15698434 | Submitted genomic | NC_000014.8:g.(?_1 06530472)_(1066936 82_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,530,472 | 106,693,682 |