nsv1368697
- 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:316,745
- 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: 2760 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2760 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 726 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1368697 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 37,567,966 | 37,884,710 |
| nsv1368697 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 37,961,768 | 38,278,512 |
| nsv1368697 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 36,248,035 | 36,564,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv7968990 | copy number loss | SNP array | Probe signal intensity |
| nssv8480654 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv7968990 | Remapped | Perfect | NC_000012.12:g.(?_ 37567966)_(3788471 0_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,567,966 | 37,884,710 |
| nssv8480654 | Remapped | Perfect | NC_000012.12:g.(?_ 37567966)_(3788471 0_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 37,567,966 | 37,884,710 |
| nssv7968990 | Remapped | Perfect | NC_000012.11:g.(?_ 37961768)_(3827851 2_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,961,768 | 38,278,512 |
| nssv8480654 | Remapped | Perfect | NC_000012.11:g.(?_ 37961768)_(3827851 2_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 37,961,768 | 38,278,512 |
| nssv7968990 | Submitted genomic | NC_000012.10:g.(?_ 36248035)_(3656477 9_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,248,035 | 36,564,779 | ||
| nssv8480654 | Submitted genomic | NC_000012.10:g.(?_ 36248035)_(3656477 9_?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 36,248,035 | 36,564,779 |