nsv6623176
- 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:287,036
- 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: 1197 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1197 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6623176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 10,547,041 | 10,834,076 |
nsv6623176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 10,640,898 | 10,927,933 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18299528 | duplication | OSC5171 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18299528 | Remapped | Perfect | NC_000016.10:g.(?_ 10547041)_(1083407 6_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 10,547,041 | 10,834,076 |
nssv18299528 | Submitted genomic | NC_000016.9:g.(?_1 0640898)_(10927933 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 10,640,898 | 10,927,933 |