nsv510532
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,001
- 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: 446 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510532 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 30,554,808 | 30,560,808 |
| nsv510532 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 30,572,925 | 30,578,925 |
| nsv510532 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 30,332,582 | 30,338,582 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618473 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621369 | sequence alteration | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622194 | sequence alteration | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv624092 | sequence alteration | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv618473 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,554,808 | 30,560,808 |
| nssv621369 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,554,808 | 30,560,808 |
| nssv622194 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,554,808 | 30,560,808 |
| nssv624092 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 30,554,808 | 30,560,808 |
| nssv618473 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,572,925 | 30,578,925 |
| nssv621369 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,572,925 | 30,578,925 |
| nssv622194 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,572,925 | 30,578,925 |
| nssv624092 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 30,572,925 | 30,578,925 |
| nssv618473 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 30,332,582 | 30,338,582 | ||
| nssv621369 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 30,332,582 | 30,338,582 | ||
| nssv622194 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 30,332,582 | 30,338,582 | ||
| nssv624092 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 30,332,582 | 30,338,582 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618473 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |