nsv1043601
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,596
- Publication(s):Coe et al. 2014
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: 2886 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 2888 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 1619 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1043601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,336,715 | 20,441,310 |
| nsv1043601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,541,968 | 20,646,563 |
| nsv1043601 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,801,982 | 18,906,577 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3536240 | copy number loss | SNP array | Probe signal intensity |
| nssv3536241 | copy number gain | SNP array | Probe signal intensity |
| nssv3536242 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3536240 | Remapped | Perfect | NC_000015.10:g.(?_ 20336715)_(2044131 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,336,715 | 20,441,310 |
| nssv3536241 | Remapped | Perfect | NC_000015.10:g.(?_ 20336715)_(2044131 0_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,336,715 | 20,441,310 |
| nssv3536242 | Remapped | Perfect | NC_000015.10:g.(?_ 20336715)_(2044131 0_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,336,715 | 20,441,310 |
| nssv3536240 | Remapped | Perfect | NC_000015.9:g.(?_2 0541968)_(20646563 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,541,968 | 20,646,563 |
| nssv3536241 | Remapped | Perfect | NC_000015.9:g.(?_2 0541968)_(20646563 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,541,968 | 20,646,563 |
| nssv3536242 | Remapped | Perfect | NC_000015.9:g.(?_2 0541968)_(20646563 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,541,968 | 20,646,563 |
| nssv3536240 | Submitted genomic | NC_000015.8:g.(?_1 8801982)_(18906577 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,801,982 | 18,906,577 | ||
| nssv3536241 | Submitted genomic | NC_000015.8:g.(?_1 8801982)_(18906577 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,801,982 | 18,906,577 | ||
| nssv3536242 | Submitted genomic | NC_000015.8:g.(?_1 8801982)_(18906577 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,801,982 | 18,906,577 |