nsv1078247
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:117
- Publication(s):Thareja et al. 2015
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: 159 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 159 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1078247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 178,585,563 | 178,585,679 |
| nsv1078247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 178,012,564 | 178,012,680 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3771947 | insertion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3771947 | Remapped | Perfect | NC_000005.10:g.(17 8585563_?)_(?_1785 85679)ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 178,585,563 | 178,585,679 |
| nssv3771947 | Submitted genomic | NC_000005.9:g.(178 012564_?)_(?_17801 2680)ins(0_?) | GRCh37 (hg19) | NC_000005.9 | Chr5 | 178,012,564 | 178,012,680 |