nsv1147428
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,347
- Publication(s):John et al. 2014
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: 138 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 24 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1147428 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 65,764,511 | 65,766,857 |
nsv1147428 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 63,760,629 | 63,762,975 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv4000205 | inversion | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv4000205 | Remapped | Perfect | NC_000017.11:g.(65 764511_?)_(?_65766 857)inv | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 65,764,511 | 65,766,857 |
nssv4000205 | Submitted genomic | NC_000017.10:g.(63 760629_?)_(?_63762 975)inv | GRCh37 (hg19) | NC_000017.10 | Chr17 | 63,760,629 | 63,762,975 |