nsv3237155
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:insertion
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:96,342
- Publication(s):Chaisson et al. 2019
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: 858 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 812 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3237155 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 88,318,402 | 88,414,743 | ||
| nsv3237155 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 88,352,008 | 88,481,151 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14260843 | insertion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
| nssv14260844 | insertion | SAMN00001695 | Optical mapping | Optical mapping | Homozygous | 15,732 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14260843 | Submitted genomic | NC_000016.10:g.(88 318402_?)_(?_88414 743)ins2282 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 88,318,402 | 88,414,743 | ||
| nssv14260844 | Submitted genomic | NC_000016.10:g.(88 318402_?)_(?_88414 743)ins2282 | GRCh38 (hg38) | NC_000016.10 | Chr16 | 88,318,402 | 88,414,743 | ||
| nssv14260843 | Remapped | Pass | NC_000016.9:g.(883 52008_?)_(?_884811 51)ins2282 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,352,008 | 88,481,151 |
| nssv14260844 | Remapped | Pass | NC_000016.9:g.(883 52008_?)_(?_884811 51)ins2282 | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 88,352,008 | 88,481,151 |