nsv510024
- 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:6,002
- 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: 339 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 339 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv510024 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,808,924 | - | 32,814,924 |
| nsv510024 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,108,016 | - | 4,114,017 |
| nsv510024 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,209,392 | - | 4,214,336 |
| nsv510024 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,228,277 | 4,231,330 | - |
| nsv510024 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 4,053,694 | - | 4,058,642 |
| nsv510024 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 4,115,004 | - | 4,119,948 |
| nsv510024 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 4,222,184 | - | 4,227,125 |
| nsv510024 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,776,701 | - | 32,782,701 |
| nsv510024 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 4,059,279 | - | 4,064,227 |
| nsv510024 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_1 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 4,064,920 | - | 4,069,864 |
| nsv510024 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_5 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 4,113,601 | - | 4,119,602 |
| nsv510024 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,208,690 | - | 4,213,634 |
| nsv510024 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_2 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 4,222,290 | - | 4,227,231 |
| nsv510024 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 32,884,679 | - | 32,890,679 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618232 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv621282 | sequence alteration | GM15510 | Optical mapping | Optical mapping | 1,740 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv618232 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,108,016 | - | 4,114,017 |
| nssv621282 | Remapped | Good | GRCh38.p12 | Second Pass | NT_167247.2 | Chr6|NT_16 7247.2 | 4,108,016 | - | 4,114,017 |
| nssv618232 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,209,392 | - | 4,214,336 |
| nssv621282 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 4,209,392 | - | 4,214,336 |
| nssv618232 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,228,277 | 4,231,330 | - |
| nssv621282 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 4,228,277 | 4,231,330 | - |
| nssv618232 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 4,053,694 | - | 4,058,642 |
| nssv621282 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 4,053,694 | - | 4,058,642 |
| nssv618232 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 4,115,004 | - | 4,119,948 |
| nssv621282 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_167244.2 | Chr6|NT_16 7244.2 | 4,115,004 | - | 4,119,948 |
| nssv618232 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 4,222,184 | - | 4,227,125 |
| nssv621282 | Remapped | Pass | GRCh38.p12 | Second Pass | NT_113891.3 | Chr6|NT_11 3891.3 | 4,222,184 | - | 4,227,125 |
| nssv618232 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,808,924 | - | 32,814,924 |
| nssv621282 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,808,924 | - | 32,814,924 |
| nssv618232 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 4,059,279 | - | 4,064,227 |
| nssv621282 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 4,059,279 | - | 4,064,227 |
| nssv618232 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 4,064,920 | - | 4,069,864 |
| nssv621282 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167244.1 | Chr6|NT_16 7244.1 | 4,064,920 | - | 4,069,864 |
| nssv618232 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 4,113,601 | - | 4,119,602 |
| nssv621282 | Remapped | Good | GRCh37.p13 | Second Pass | NT_167247.1 | Chr6|NT_16 7247.1 | 4,113,601 | - | 4,119,602 |
| nssv618232 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,208,690 | - | 4,213,634 |
| nssv621282 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 4,208,690 | - | 4,213,634 |
| nssv618232 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 4,222,290 | - | 4,227,231 |
| nssv621282 | Remapped | Pass | GRCh37.p13 | Second Pass | NT_113891.2 | Chr6|NT_11 3891.2 | 4,222,290 | - | 4,227,231 |
| nssv618232 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,776,701 | - | 32,782,701 |
| nssv621282 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,776,701 | - | 32,782,701 |
| nssv618232 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 32,884,679 | - | 32,890,679 | ||
| nssv621282 | Submitted genomic | NCBI35 (hg17) | NC_000006.9 | Chr6 | 32,884,679 | - | 32,890,679 |
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 |
|---|---|---|---|---|---|---|---|
| nssv618232 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |