nsv1140167
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:129
- Publication(s):Alsmadi 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: 405 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 34 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1140167 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 49,595,492 | 49,595,620 |
nsv1140167 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 49,989,140 | 49,989,268 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv3978879 | insertion | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3978879 | Remapped | Perfect | NC_000022.11:g.(49 595492_?)_(?_49595 620)ins? | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 49,595,492 | 49,595,620 |
nssv3978879 | Submitted genomic | NC_000022.10:g.(49 989140_?)_(?_49989 268)ins? | GRCh37 (hg19) | NC_000022.10 | Chr22 | 49,989,140 | 49,989,268 |