nsv830195
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:214,195
- Publication(s):Wong et al. 2006
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: 988 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 988 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 93 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 | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv830195 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 5,748,736 | 5,962,930 |
nsv830195 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 5,748,849 | 5,963,043 |
nsv830195 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 5,801,849 | 6,016,043 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1444221 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1444221 | Remapped | Perfect | NC_000005.10:g.(57 48736_?)_(?_596293 0)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 5,748,736 | 5,962,930 |
nssv1444221 | Remapped | Perfect | NC_000005.9:g.(574 8849_?)_(?_5963043 )del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 5,748,849 | 5,963,043 |
nssv1444221 | Submitted genomic | NC_000005.8:g.(580 1849_?)_(?_6016043 )del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 5,801,849 | 6,016,043 |