nsv1125223
- 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:121
- 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: 181 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 43 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1125223 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 64,173,525 | 64,173,645 |
| nsv1125223 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187624.1 | Chr20|NT_1 87624.1 | 82,116 | 82,236 |
| nsv1125223 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 62,804,878 | 62,804,998 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3978028 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3978028 | Remapped | Perfect | NT_187624.1:g.(821 16_?)_(?_82236)ins ? | GRCh38.p12 | Second Pass | NT_187624.1 | Chr20|NT_1 87624.1 | 82,116 | 82,236 |
| nssv3978028 | Remapped | Perfect | NC_000020.11:g.(64 173525_?)_(?_64173 645)ins? | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 64,173,525 | 64,173,645 |
| nssv3978028 | Submitted genomic | NC_000020.10:g.(62 804878_?)_(?_62804 998)ins? | GRCh37 (hg19) | NC_000020.10 | Chr20 | 62,804,878 | 62,804,998 |