nsv510553
- 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: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: 416 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 118,508,478 | 118,514,478 |
| nsv510553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 117,642,441 | 117,648,441 |
| nsv510553 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 117,424,323 | 117,430,323 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618484 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv622205 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv618484 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 118,508,478 | 118,514,478 |
| nssv622205 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 118,508,478 | 118,514,478 |
| nssv618484 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 117,642,441 | 117,648,441 |
| nssv622205 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 117,642,441 | 117,648,441 |
| nssv618484 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 117,424,323 | 117,430,323 | ||
| nssv622205 | Submitted genomic | NCBI35 (hg17) | NC_000023.8 | ChrX | 117,424,323 | 117,430,323 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618484 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |