nsv7362
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:43,238
- Publication(s):Kidd et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 180 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 2 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7362 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 66,944,957 | 66,988,194 |
nsv7362 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 67,810,675 | 67,853,912 |
nsv7362 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 67,639,441 | 67,682,678 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv7091 | Remapped | Perfect | NC_000004.12:g.(66 944957_?)_(?_66988 194)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 66,944,957 | 66,988,194 |
nssv7091 | Remapped | Perfect | NC_000004.11:g.(67 810675_?)_(?_67853 912)inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 67,810,675 | 67,853,912 |
nssv7091 | Submitted genomic | NC_000004.9:g.(676 39441_?)_(?_676826 78)inv | NCBI35 (hg17) | NC_000004.9 | Chr4 | 67,639,441 | 67,682,678 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv7091 | 3 | NA12156 | Multiple complete digestion | MCD analysis | Pass |