nsv1152646
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:144
- 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: 201 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1152646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 132,317,005 | 132,317,148 |
nsv1152646 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 132,893,591 | 132,893,734 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3999827 | insertion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3999827 | Remapped | Perfect | NC_000012.12:g.(13 2317005_?)_(?_1323 17148)ins? | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 132,317,005 | 132,317,148 |
nssv3999827 | Submitted genomic | NC_000012.11:g.(13 2893591_?)_(?_1328 93734)ins(0_?) | GRCh37 (hg19) | NC_000012.11 | Chr12 | 132,893,591 | 132,893,734 |