nsv1077674
- 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:185
- 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: 158 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1077674 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 40,947,788 | 40,947,846 |
| nsv1077674 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 97,056 | 97,240 |
| nsv1077674 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,104,040 | 39,104,098 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3765340 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3765340 | Remapped | Pass | NW_003871091.1:g.( 97056_?)_(?_97240) ins? | GRCh38.p12 | Second Pass | NW_003871091.1 | Chr17|NW_0 03871091.1 | 97,056 | 97,240 |
| nssv3765340 | Remapped | Perfect | NC_000017.11:g.(40 947788_?)_(?_40947 846)ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 40,947,788 | 40,947,846 |
| nssv3765340 | Submitted genomic | NC_000017.10:g.(39 104040_?)_(?_39104 098)ins(0_?) | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,104,040 | 39,104,098 |