nsv1064103
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:230,853
- 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: 1259 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 709 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1167 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1064103 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,649,338 | 20,880,190 |
| nsv1064103 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 1 | 223,466 |
| nsv1064103 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 20,845,947 | 21,062,996 |
| nsv1064103 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 1 | 223,466 |
| nsv1064103 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 20,623,984 | 20,854,836 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3476163 | copy number gain | 9879244 | Oligo aCGH | Probe signal intensity | nssv3466194, nssv3482486 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3476163 | Remapped | Good | NW_003315962.1:g.( ?_1)_(223466_?)dup | GRCh38.p12 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 1 | 223,466 |
| nssv3476163 | Remapped | Perfect | NC_000019.10:g.(?_ 20649338)_(2088019 0_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,649,338 | 20,880,190 |
| nssv3476163 | Remapped | Good | NW_003315962.1:g.( ?_1)_(223466_?)dup | GRCh37.p13 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 1 | 223,466 |
| nssv3476163 | Remapped | Pass | NC_000019.9:g.(?_2 0845947)_(21062996 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 20,845,947 | 21,062,996 |
| nssv3476163 | Submitted genomic | NC_000019.8:g.(?_2 0623984)_(20854836 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 20,623,984 | 20,854,836 |