nsv4366321
- 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:47,906
- 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: 923 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366321 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 559,452 | 607,357 |
| nsv4366321 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187550.1 | Chr5|NT_18 7550.1 | 19,540 | 67,445 |
| nsv4366321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 559,567 | 607,472 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15660763 | copy number gain | 5-0065-001 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15660763 | Remapped | Perfect | NT_187550.1:g.(?_1 9540)_(67445_?)dup | GRCh38.p12 | Second Pass | NT_187550.1 | Chr5|NT_18 7550.1 | 19,540 | 67,445 |
| nssv15660763 | Remapped | Perfect | NC_000005.10:g.(?_ 559452)_(607357_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 559,452 | 607,357 |
| nssv15660763 | Submitted genomic | NC_000005.9:g.(?_5 59567)_(607472_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 559,567 | 607,472 |