nsv507853
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:10,266
- Publication(s):Teague et al. 2010
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: 124 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 3 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 |
---|---|---|---|---|---|---|---|---|---|
nsv507853 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 64,364,693 | 64,374,958 |
nsv507853 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 168,540 | 178,805 |
nsv507853 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 59,795,793 | 59,801,793 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|---|
nssv617927 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
nssv619190 | sequence alteration | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|
nssv617927 | Remapped | Pass | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,363,573 | 64,373,839 |
nssv619190 | Remapped | Pass | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 64,364,693 | 64,374,958 |
nssv617927 | Remapped | Pass | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 167,420 | 177,686 |
nssv619190 | Remapped | Pass | GRCh37.p13 | First Pass | NW_003315947.1 | Chr17|NW_0 03315947.1 | 168,540 | 178,805 |
nssv617927 | Submitted genomic | NCBI35 (hg17) | NC_000017.9 | Chr17 | 59,794,673 | 59,800,673 | ||
nssv619190 | Submitted genomic | NCBI35 (hg17) | NC_000017.9 | Chr17 | 59,795,793 | 59,801,793 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
nssv617927 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |