nsv510947
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:complex substitution
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:32,901
- 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: 883 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 185 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 883 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 61 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 24 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv510947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,000,821 | 79,028,287 |
| nsv510947 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 65,936 | 97,268 |
| nsv510947 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 65,937 | 98,837 |
| nsv510947 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 76,760,821 | 76,788,287 |
| nsv510947 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 65,937 | 98,837 |
| nsv510947 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000018.8 | Chr18 | 74,861,809 | 74,889,275 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618679 | complex substitution | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|
| nssv618679 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 65,936 | 97,268 |
| nssv618679 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 65,937 | 98,837 |
| nssv618679 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,000,821 | 79,028,287 |
| nssv618679 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 65,937 | 98,837 |
| nssv618679 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 76,760,821 | 76,788,287 |
| nssv618679 | Submitted genomic | NCBI35 (hg17) | NC_000018.8 | Chr18 | 74,861,809 | 74,889,275 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618679 | CHM | complex substitution | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |