nsv821633
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,753
- Publication(s):Sebat et al. 2004
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: 712 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 608 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 317 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821633 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 14,287 | 65,039 |
| nsv821633 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 25,701 | 64,931 |
| nsv821633 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 15,701 | 55,039 |
| nsv821633 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 4,287 | 54,931 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421356 | copy number gain | ROMA | Probe signal intensity |
| nssv1421357 | copy number gain | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421356 | Remapped | Good | NC_000004.12:g.(?_ 14287)_(65039_?)du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 14,287 | 65,039 |
| nssv1421357 | Remapped | Good | NC_000004.12:g.(?_ 14287)_(65039_?)du p | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 14,287 | 65,039 |
| nssv1421356 | Remapped | Pass | NW_004775427.1:g.( ?_15701)_(55039_?) dup | GRCh37.p13 | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 15,701 | 55,039 |
| nssv1421357 | Remapped | Pass | NW_004775427.1:g.( ?_15701)_(55039_?) dup | GRCh37.p13 | Second Pass | NW_004775427.1 | Chr4|NW_00 4775427.1 | 15,701 | 55,039 |
| nssv1421356 | Remapped | Pass | NC_000004.11:g.(?_ 25701)_(64931_?)du p | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 64,931 |
| nssv1421357 | Remapped | Pass | NC_000004.11:g.(?_ 25701)_(64931_?)du p | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 25,701 | 64,931 |
| nssv1421356 | Submitted genomic | NC_000004.9:g.(?_4 287)_(54931_?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 4,287 | 54,931 | ||
| nssv1421357 | Submitted genomic | NC_000004.9:g.(?_4 287)_(54931_?)dup | NCBI35 (hg17) | NC_000004.9 | Chr4 | 4,287 | 54,931 |