nsv1003423
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:169,876
- 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: 850 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 850 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1003423 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 130,018,540 | 130,188,415 |
| nsv1003423 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 129,737,383 | 129,907,258 |
| nsv1003423 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 131,220,073 | 131,389,948 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3736444 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3736444 | Remapped | Perfect | NC_000003.12:g.(?_ 130018540)_(130188 415_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 130,018,540 | 130,188,415 |
| nssv3736444 | Remapped | Perfect | NC_000003.11:g.(?_ 129737383)_(129907 258_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 129,737,383 | 129,907,258 |
| nssv3736444 | Submitted genomic | NC_000003.10:g.(?_ 131220073)_(131389 948_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 131,220,073 | 131,389,948 |