nsv832502
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,560
- 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: 292 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 292 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv832502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 104,439,951 | 104,514,510 |
| nsv832502 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 104,833,729 | 104,908,288 |
| nsv832502 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 103,336,196 | 103,410,755 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1449987 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1449988 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1449989 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1449990 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1449987 | Remapped | Perfect | NC_000012.12:g.(10 4439951_?)_(?_1045 14510)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 104,439,951 | 104,514,510 |
| nssv1449988 | Remapped | Perfect | NC_000012.12:g.(10 4439951_?)_(?_1045 14510)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 104,439,951 | 104,514,510 |
| nssv1449989 | Remapped | Perfect | NC_000012.12:g.(10 4439951_?)_(?_1045 14510)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 104,439,951 | 104,514,510 |
| nssv1449990 | Remapped | Perfect | NC_000012.12:g.(10 4439951_?)_(?_1045 14510)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 104,439,951 | 104,514,510 |
| nssv1449987 | Remapped | Perfect | NC_000012.11:g.(10 4833729_?)_(?_1049 08288)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 104,833,729 | 104,908,288 |
| nssv1449988 | Remapped | Perfect | NC_000012.11:g.(10 4833729_?)_(?_1049 08288)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 104,833,729 | 104,908,288 |
| nssv1449989 | Remapped | Perfect | NC_000012.11:g.(10 4833729_?)_(?_1049 08288)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 104,833,729 | 104,908,288 |
| nssv1449990 | Remapped | Perfect | NC_000012.11:g.(10 4833729_?)_(?_1049 08288)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 104,833,729 | 104,908,288 |
| nssv1449987 | Submitted genomic | NC_000012.9:g.(103 336196_?)_(?_10341 0755)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 103,336,196 | 103,410,755 | ||
| nssv1449988 | Submitted genomic | NC_000012.9:g.(103 336196_?)_(?_10341 0755)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 103,336,196 | 103,410,755 | ||
| nssv1449989 | Submitted genomic | NC_000012.9:g.(103 336196_?)_(?_10341 0755)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 103,336,196 | 103,410,755 | ||
| nssv1449990 | Submitted genomic | NC_000012.9:g.(103 336196_?)_(?_10341 0755)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 103,336,196 | 103,410,755 |