nsv4383541
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:989,048
- 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: 13510 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 9335 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 12817 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383541 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 106,635,639 |
| nsv4383541 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 225,031 | 1,214,078 |
| nsv4383541 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,223,599 | 107,091,644 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15642004 | copy number loss | 15-1127-004 | SNP array | Genotyping | 32 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15642004 | Remapped | Pass | NT_187600.1:g.(?_2 25031)_(1214078_?) del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 225,031 | 1,214,078 |
| nssv15642004 | Remapped | Good | NC_000014.9:g.(?_1 05786368)_(1066356 39_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 106,635,639 |
| nssv15642004 | Submitted genomic | NC_000014.8:g.(?_1 06223599)_(1070916 44_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,223,599 | 107,091,644 |