nsv594944
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,033
- Publication(s):Cooper et al. 2011
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: 131 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 34 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv594944 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 99,949,742 | 99,950,774 |
| nsv594944 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 100,870,899 | 100,871,931 |
| nsv594944 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 101,089,922 | 101,090,954 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1003439 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1003439 | Remapped | Perfect | NC_000004.12:g.(?_ 99949742)_(9995077 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 99,949,742 | 99,950,774 |
| nssv1003439 | Remapped | Perfect | NC_000004.11:g.(?_ 100870899)_(100871 931_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 100,870,899 | 100,871,931 |
| nssv1003439 | Submitted genomic | NC_000004.10:g.(?_ 101089922)_(101090 954_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 101,089,922 | 101,090,954 |