nsv4371660
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:47,318
- 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: 213 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 474 SVs from 61 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4371660 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,276,388 |
nsv4371660 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,350,006 | 36,397,323 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15632546 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2276388_? )del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,276,388 |
nssv15677844 | Remapped | Perfect | NT_187614.1:g.(?_2 229071)_(2276388_? )dup | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,229,071 | 2,276,388 |
nssv15632546 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3639732 3_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,397,323 | ||
nssv15677844 | Submitted genomic | NC_000017.10:g.(?_ 36350006)_(3639732 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,350,006 | 36,397,323 |