nsv511044
- Organism: Homo sapiens
- Study:nstd49 (Teague et al. 2010)
- Variant Type:inversion
- Method Type:Optical mapping
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:96,076
- 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: 923 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 567 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 8 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 |
---|---|---|---|---|---|---|---|---|---|
nsv511044 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,314,343 | 31,410,410 |
nsv511044 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,600,167 | 3,696,242 |
nsv511044 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,487,715 | 3,583,790 |
nsv511044 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 31,606,546 | 31,702,613 |
nsv511044 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 29,393,838 | 29,489,905 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv622413 | inversion | GM10860 | Optical mapping | Optical mapping | 1,998 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv622413 | Remapped | Good | NT_187660.1:g.(360 0167_?)_(?_3696242 )inv18883 | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 3,600,167 | 3,696,242 |
nssv622413 | Remapped | Good | NW_011332701.1:g.( 3487715_?)_(?_3583 790)inv18883 | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,487,715 | 3,583,790 |
nssv622413 | Remapped | Perfect | NC_000015.10:g.(31 314343_?)_(?_31410 410)inv18883 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,314,343 | 31,410,410 |
nssv622413 | Remapped | Perfect | NC_000015.9:g.(316 06546_?)_(?_317026 13)inv18883 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 31,606,546 | 31,702,613 |
nssv622413 | Submitted genomic | NC_000015.8:g.(293 93838_?)_(?_294899 05)inv18883 | NCBI35 (hg17) | NC_000015.8 | Chr15 | 29,393,838 | 29,489,905 |