nsv4371573
- 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:300,594
- 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: 879 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 879 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4371573 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 125,042,729 | 125,343,322 |
nsv4371573 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 124,912,625 | 125,213,218 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15622610 | copy number gain | 1-0255-003 | SNP array | Genotyping | 22 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15622610 | Remapped | Perfect | NC_000011.10:g.(?_ 125042729)_(125343 322_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 125,042,729 | 125,343,322 |
nssv15622610 | Submitted genomic | NC_000011.9:g.(?_1 24912625)_(1252132 18_?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 124,912,625 | 125,213,218 |