nsv6623554
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,193,856
- Publication(s):Zarrei et al. 2023
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: 4972 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 2740 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 4972 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623554 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,004,271 | 16,198,126 |
| nsv6623554 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 843,618 | 1,856,122 |
| nsv6623554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,098,128 | 16,291,983 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287314 | duplication | OSC3044 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287314 | Remapped | Pass | NT_187607.1:g.(?_8 43618)_(1856122_?) dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 843,618 | 1,856,122 |
| nssv18287314 | Remapped | Perfect | NC_000016.10:g.(?_ 15004271)_(1619812 6_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,004,271 | 16,198,126 |
| nssv18287314 | Submitted genomic | NC_000016.9:g.(?_1 5098128)_(16291983 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,098,128 | 16,291,983 |