nsv509667
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- 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: 239 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 75 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 76 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509667 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 72,838,756 | 72,864,957 |
| nsv509667 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 5,426 | 37,976 |
| nsv509667 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 5,426 | 37,923 |
| nsv509667 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 70,834,895 | 70,861,096 |
| nsv509667 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000017.9 | Chr17 | 68,346,490 | 68,372,691 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618124 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv619718 | insertion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv621045 | insertion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv618124 | Remapped | Pass | NW_019805501.1:g.( 5426_?)_(?_37923)i ns8193 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 5,426 | 37,923 |
| nssv619718 | Remapped | Pass | NW_019805501.1:g.( 5426_?)_(?_37923)i ns5117 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 5,426 | 37,923 |
| nssv621045 | Remapped | Pass | NW_019805501.1:g.( 5426_?)_(?_37923)i ns6393 | GRCh38.p12 | Second Pass | NW_019805501.1 | Chr17|NW_0 19805501.1 | 5,426 | 37,923 |
| nssv618124 | Remapped | Pass | NT_187616.1:g.(542 6_?)_(?_37976)ins8 193 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 5,426 | 37,976 |
| nssv619718 | Remapped | Pass | NT_187616.1:g.(542 6_?)_(?_37976)ins5 117 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 5,426 | 37,976 |
| nssv621045 | Remapped | Pass | NT_187616.1:g.(542 6_?)_(?_37976)ins6 393 | GRCh38.p12 | Second Pass | NT_187616.1 | Chr17|NT_1 87616.1 | 5,426 | 37,976 |
| nssv618124 | Remapped | Perfect | NC_000017.11:g.(72 838756_?)_(?_72864 957)ins8193 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,838,756 | 72,864,957 |
| nssv619718 | Remapped | Perfect | NC_000017.11:g.(72 838756_?)_(?_72864 957)ins5117 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,838,756 | 72,864,957 |
| nssv621045 | Remapped | Perfect | NC_000017.11:g.(72 838756_?)_(?_72864 957)ins6393 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,838,756 | 72,864,957 |
| nssv618124 | Remapped | Perfect | NC_000017.10:g.(70 834895_?)_(?_70861 096)ins8193 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,834,895 | 70,861,096 |
| nssv619718 | Remapped | Perfect | NC_000017.10:g.(70 834895_?)_(?_70861 096)ins5117 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,834,895 | 70,861,096 |
| nssv621045 | Remapped | Perfect | NC_000017.10:g.(70 834895_?)_(?_70861 096)ins6393 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 70,834,895 | 70,861,096 |
| nssv618124 | Submitted genomic | NC_000017.9:g.(683 46490_?)_(?_683726 91)ins8193 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,346,490 | 68,372,691 | ||
| nssv619718 | Submitted genomic | NC_000017.9:g.(683 46490_?)_(?_683726 91)ins5117 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,346,490 | 68,372,691 | ||
| nssv621045 | Submitted genomic | NC_000017.9:g.(683 46490_?)_(?_683726 91)ins6393 | NCBI35 (hg17) | NC_000017.9 | Chr17 | 68,346,490 | 68,372,691 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv621045 | 2 | GM15510 | Sequencing | Paired-end mapping | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv618124 | CHM | NCBI35: NC_000017.9:g.(68346490_?)_(?_68372691)ins8193 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |