nsv4375028
- 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:287,926
- 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: 6541 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 5322 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 6803 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375028 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 106,074,293 |
| nsv4375028 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 208,450 | 475,851 |
| nsv4375028 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,207,018 | 106,530,534 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15635335 | copy number loss | 12-4168-004 | SNP array | Genotyping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15635335 | Remapped | Pass | NT_187600.1:g.(?_2 08450)_(475851_?)d el | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 208,450 | 475,851 |
| nssv15635335 | Remapped | Pass | NC_000014.9:g.(?_1 05786368)_(1060742 93_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,786,368 | 106,074,293 |
| nssv15635335 | Submitted genomic | NC_000014.8:g.(?_1 06207018)_(1065305 34_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,207,018 | 106,530,534 |