nsv509140
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:44,442
- 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: 181 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv509140 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 79,371,883 | 79,388,493 |
| nsv509140 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nsv509140 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 80,081,600 | 80,098,210 |
| nsv509140 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nsv509140 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 80,138,319 | 80,154,929 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv618052 | insertion | CHM | Optical mapping | Optical mapping | Hydatidiform Mole | not provided | Submitter | 1,350 |
| nssv619453 | insertion | GM10860 | Optical mapping | Optical mapping | 1,998 | |||
| nssv620855 | insertion | GM15510 | Optical mapping | Optical mapping | 1,740 | |||
| nssv623479 | insertion | GM18994 | Optical mapping | Optical mapping | 1,936 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv618052 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins26772 | GRCh38.p12 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv619453 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins27893 | GRCh38.p12 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv620855 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins26753 | GRCh38.p12 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv623479 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins28369 | GRCh38.p12 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv618052 | Remapped | Perfect | NC_000006.12:g.(79 371883_?)_(?_79388 493)ins26772 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 79,371,883 | 79,388,493 |
| nssv619453 | Remapped | Perfect | NC_000006.12:g.(79 371883_?)_(?_79388 493)ins27893 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 79,371,883 | 79,388,493 |
| nssv620855 | Remapped | Perfect | NC_000006.12:g.(79 371883_?)_(?_79388 493)ins26753 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 79,371,883 | 79,388,493 |
| nssv623479 | Remapped | Perfect | NC_000006.12:g.(79 371883_?)_(?_79388 493)ins28369 | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 79,371,883 | 79,388,493 |
| nssv618052 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins26772 | GRCh37.p13 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv619453 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins27893 | GRCh37.p13 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv620855 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins26753 | GRCh37.p13 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv623479 | Remapped | Pass | NW_003315921.1:g.( 58419_?)_(?_102860 )ins28369 | GRCh37.p13 | Second Pass | NW_003315921.1 | Chr6|NW_00 3315921.1 | 58,419 | 102,860 |
| nssv618052 | Remapped | Perfect | NC_000006.11:g.(80 081600_?)_(?_80098 210)ins26772 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 80,081,600 | 80,098,210 |
| nssv619453 | Remapped | Perfect | NC_000006.11:g.(80 081600_?)_(?_80098 210)ins27893 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 80,081,600 | 80,098,210 |
| nssv620855 | Remapped | Perfect | NC_000006.11:g.(80 081600_?)_(?_80098 210)ins26753 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 80,081,600 | 80,098,210 |
| nssv623479 | Remapped | Perfect | NC_000006.11:g.(80 081600_?)_(?_80098 210)ins28369 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 80,081,600 | 80,098,210 |
| nssv618052 | Submitted genomic | NC_000006.9:g.(801 38319_?)_(?_801549 29)ins26772 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 80,138,319 | 80,154,929 | ||
| nssv619453 | Submitted genomic | NC_000006.9:g.(801 38319_?)_(?_801549 29)ins27893 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 80,138,319 | 80,154,929 | ||
| nssv620855 | Submitted genomic | NC_000006.9:g.(801 38319_?)_(?_801549 29)ins26753 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 80,138,319 | 80,154,929 | ||
| nssv623479 | Submitted genomic | NC_000006.9:g.(801 38319_?)_(?_801549 29)ins28369 | NCBI35 (hg17) | NC_000006.9 | Chr6 | 80,138,319 | 80,154,929 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|---|
| nssv618052 | CHM | NCBI35: NC_000006.9:g.(80138319_?)_(?_80154929)ins26772 | insertion | Hydatidiform Mole | not provided | Submitter | Female | 1,350 |