nsv4369196
- 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:143,919
- 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: 862 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1081 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1350 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369196 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,634,755 | 142,778,673 |
| nsv4369196 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nsv4369196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 142,342,271 | 142,486,483 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15634447 | copy number gain | 11-0041-003 | SNP array | Genotyping | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15634447 | Remapped | Pass | NT_187562.1:g.(?_6 56734)_(781128_?)d up | GRCh38.p12 | First Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 656,734 | 781,128 |
| nssv15634447 | Remapped | Good | NC_000007.14:g.(?_ 142634755)_(142778 673_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,634,755 | 142,778,673 |
| nssv15634447 | Submitted genomic | NC_000007.13:g.(?_ 142342271)_(142486 483_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 142,342,271 | 142,486,483 |