nsv1389652
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,666
- Publication(s):Duyzend et al. 2015
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: 3375 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3380 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2253 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1389652 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,481,739 | 32,624,404 |
nsv1389652 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,493,060 | 32,635,725 |
nsv1389652 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 32,400,561 | 32,543,226 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv8041841 | copy number loss | SNP array | Probe signal intensity |
nssv8554247 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv8041841 | Remapped | Perfect | NC_000016.10:g.(?_ 32481739)_(3262440 4_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,481,739 | 32,624,404 |
nssv8554247 | Remapped | Perfect | NC_000016.10:g.(?_ 32481739)_(3262440 4_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,481,739 | 32,624,404 |
nssv8041841 | Remapped | Perfect | NC_000016.9:g.(?_3 2493060)_(32635725 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,493,060 | 32,635,725 |
nssv8554247 | Remapped | Perfect | NC_000016.9:g.(?_3 2493060)_(32635725 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,493,060 | 32,635,725 |
nssv8041841 | Submitted genomic | NC_000016.8:g.(?_3 2400561)_(32543226 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,400,561 | 32,543,226 | ||
nssv8554247 | Submitted genomic | NC_000016.8:g.(?_3 2400561)_(32543226 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 32,400,561 | 32,543,226 |