nsv471787
- Organism: Homo sapiens
- Study:nstd34 (Hinds et al. 2005)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:8,002
- Publication(s):Hinds et al. 2005
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: 321 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv471787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 118,050,437 | 118,051,437 | 118,058,138 | 118,058,438 |
| nsv471787 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 117,386,132 | 117,387,132 | 117,393,833 | 117,394,133 |
| nsv471787 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 117,414,031 | 117,415,031 | 117,421,732 | 117,422,032 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv646068 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv646068 | Remapped | Perfect | NC_000005.10:g.(11 8050437_118051437) _(118058138_118058 438)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,050,437 | 118,051,437 | 118,058,138 | 118,058,438 |
| nssv646068 | Remapped | Perfect | NC_000005.9:g.(117 386132_117387132)_ (117393833_1173941 33)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,386,132 | 117,387,132 | 117,393,833 | 117,394,133 |
| nssv646068 | Submitted genomic | NC_000005.8:g.(117 414031_117415031)_ (117421732_1174220 32)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,414,031 | 117,415,031 | 117,421,732 | 117,422,032 |
Validation Information
| Variant Call ID | Experiment ID | Method | Analysis | Result |
|---|---|---|---|---|
| nssv646068 | 2 | PCR | Manual observation | Pass |