nsv508672
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- 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: 421 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 421 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv508672 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 45,490,947 | 45,537,308 |
| nsv508672 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 45,884,730 | 45,931,091 |
| nsv508672 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 44,170,997 | 44,217,358 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617399 | deletion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv618893 | deletion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv620048 | deletion | GM15510 | Optical mapping | Optical mapping | 1,740 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv617399 | Remapped | Perfect | NC_000012.12:g.(45 490947_?)_(?_45537 308)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,490,947 | 45,537,308 |
| nssv618893 | Remapped | Perfect | NC_000012.12:g.(45 490947_?)_(?_45537 308)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,490,947 | 45,537,308 |
| nssv620048 | Remapped | Perfect | NC_000012.12:g.(45 490947_?)_(?_45537 308)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 45,490,947 | 45,537,308 |
| nssv617399 | Remapped | Perfect | NC_000012.11:g.(45 884730_?)_(?_45931 091)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 45,884,730 | 45,931,091 |
| nssv618893 | Remapped | Perfect | NC_000012.11:g.(45 884730_?)_(?_45931 091)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 45,884,730 | 45,931,091 |
| nssv620048 | Remapped | Perfect | NC_000012.11:g.(45 884730_?)_(?_45931 091)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 45,884,730 | 45,931,091 |
| nssv617399 | Submitted genomic | NC_000012.9:g.(441 70997_?)_(?_442173 58)del8131 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 44,170,997 | 44,217,358 | ||
| nssv618893 | Submitted genomic | NC_000012.9:g.(441 70997_?)_(?_442173 58)del7249 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 44,170,997 | 44,217,358 | ||
| nssv620048 | Submitted genomic | NC_000012.9:g.(441 70997_?)_(?_442173 58)del3905 | NCBI35 (hg17) | NC_000012.9 | Chr12 | 44,170,997 | 44,217,358 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv618893 | 9 | GM10860 | Oligo aCGH | Probe signal intensity | Pass |
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv617399 | CHM | NCBI35: NC_000012.9:g.(44170997_?)_(?_44217358)del8131 | deletion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |