nsv4369012
- 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:45,144
- 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: 271 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 269 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369012 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,915,335 | 40,960,351 |
| nsv4369012 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 64,603 | 109,746 |
| nsv4369012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,071,587 | 39,116,603 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15699063 | copy number loss | 178076 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15699063 | Remapped | Good | NW_003871091.1:g.( ?_64603)_(109746_? )del | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 64,603 | 109,746 |
| nssv15699063 | Remapped | Perfect | NC_000017.11:g.(?_ 40915335)_(4096035 1_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,915,335 | 40,960,351 |
| nssv15699063 | Submitted genomic | NC_000017.10:g.(?_ 39071587)_(3911660 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,071,587 | 39,116,603 |