nsv507259
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:sequence alteration
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,522
- 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: 310 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 310 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv507259 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 69,622,870 | 69,628,870 |
| nsv507259 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,764 | 935,285 |
| nsv507259 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 68,918,697 | 68,924,697 |
| nsv507259 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,764 | 935,285 |
| nsv507259 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 68,954,453 | 68,960,453 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv617676 | sequence alteration | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv620301 | sequence alteration | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv622940 | sequence alteration | GM18994 | Optical mapping | Optical mapping | 1,936 | |||
| nssv621796 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv617676 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,764 | 935,285 |
| nssv620301 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,778 | 935,299 |
| nssv622940 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,925 | 935,446 |
| nssv621796 | Remapped | Pass | GRCh38.p12 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,962 | 935,483 |
| nssv621796 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,622,672 | 69,628,672 |
| nssv622940 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,622,709 | 69,628,709 |
| nssv620301 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,622,856 | 69,628,856 |
| nssv617676 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 69,622,870 | 69,628,870 |
| nssv617676 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,764 | 935,285 |
| nssv620301 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,778 | 935,299 |
| nssv622940 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,925 | 935,446 |
| nssv621796 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003315917.2 | Chr5|NW_00 3315917.2 | 928,962 | 935,483 |
| nssv621796 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 68,918,499 | 68,924,499 |
| nssv622940 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 68,918,536 | 68,924,536 |
| nssv620301 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 68,918,683 | 68,924,683 |
| nssv617676 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 68,918,697 | 68,924,697 |
| nssv621796 | Submitted genomic | NCBI35 (hg17) | NC_000005.8 | Chr5 | 68,954,255 | 68,960,255 | ||
| nssv622940 | Submitted genomic | NCBI35 (hg17) | NC_000005.8 | Chr5 | 68,954,292 | 68,960,292 | ||
| nssv620301 | Submitted genomic | NCBI35 (hg17) | NC_000005.8 | Chr5 | 68,954,439 | 68,960,439 | ||
| nssv617676 | Submitted genomic | NCBI35 (hg17) | NC_000005.8 | Chr5 | 68,954,453 | 68,960,453 |
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 |
|---|---|---|---|---|---|---|---|
| nssv617676 | CHM | sequence alteration | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |