nsv507460
- 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:6,018
- 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: 206 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv507460 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,211,421 | 39,217,421 |
| nsv507460 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 117,112 | 123,129 |
| nsv507460 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,068,940 | 39,074,940 |
| nsv507460 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 39,188,097 | 39,194,097 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv620414 | sequence alteration | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv617766 | sequence alteration | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv620414 | Remapped | Good | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 116,854 | 122,871 |
| nssv617766 | Remapped | Good | GRCh38.p12 | Second Pass | NT_187577.1 | Chr8|NT_18 7577.1 | 117,112 | 123,129 |
| nssv620414 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,211,163 | 39,217,163 |
| nssv617766 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,211,421 | 39,217,421 |
| nssv620414 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,068,682 | 39,074,682 |
| nssv617766 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,068,940 | 39,074,940 |
| nssv620414 | Submitted genomic | NCBI35 (hg17) | NC_000008.9 | Chr8 | 39,187,839 | 39,193,839 | ||
| nssv617766 | Submitted genomic | NCBI35 (hg17) | NC_000008.9 | Chr8 | 39,188,097 | 39,194,097 |
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 |
|---|---|---|---|---|---|---|---|
| nssv617766 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |