nsv1062920
- 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:81,632
- 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: 459 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 459 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1062920 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 48,238,370 | 48,320,001 |
| nsv1062920 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 48,741,627 | 48,823,258 |
| nsv1062920 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 53,433,439 | 53,515,070 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3574954 | copy number loss | SNP array | Probe signal intensity |
| nssv3574955 | copy number loss | SNP array | Probe signal intensity |
| nssv3574956 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3574954 | Remapped | Perfect | NC_000019.10:g.(?_ 48238370)_(4832000 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 48,238,370 | 48,320,001 |
| nssv3574955 | Remapped | Perfect | NC_000019.10:g.(?_ 48238370)_(4832000 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 48,238,370 | 48,320,001 |
| nssv3574956 | Remapped | Perfect | NC_000019.10:g.(?_ 48238370)_(4832000 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 48,238,370 | 48,320,001 |
| nssv3574954 | Remapped | Perfect | NC_000019.9:g.(?_4 8741627)_(48823258 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 48,741,627 | 48,823,258 |
| nssv3574955 | Remapped | Perfect | NC_000019.9:g.(?_4 8741627)_(48823258 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 48,741,627 | 48,823,258 |
| nssv3574956 | Remapped | Perfect | NC_000019.9:g.(?_4 8741627)_(48823258 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 48,741,627 | 48,823,258 |
| nssv3574954 | Submitted genomic | NC_000019.8:g.(?_5 3433439)_(53515070 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 53,433,439 | 53,515,070 | ||
| nssv3574955 | Submitted genomic | NC_000019.8:g.(?_5 3433439)_(53515070 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 53,433,439 | 53,515,070 | ||
| nssv3574956 | Submitted genomic | NC_000019.8:g.(?_5 3433439)_(53515070 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 53,433,439 | 53,515,070 |