nsv3418716
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano 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: 156 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418716 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nsv3418716 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14732325 | insertion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14734885 | insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14736072 | insertion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14736090 | insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14737532 | insertion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14739418 | insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14740116 | insertion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14741040 | insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14741832 | insertion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14746684 | insertion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14732325 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14734885 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14736072 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14736090 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14737532 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14739418 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14740116 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14741040 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14741832 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14746684 | Submitted genomic | NC_000007.14:g.637 61317_63761318ins9 7 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 63,761,317 | 63,761,317 | ||
| nssv14732325 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14734885 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14736072 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14736090 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14737532 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14739418 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14740116 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14741040 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14741832 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |
| nssv14746684 | Remapped | Perfect | NC_000007.13:g.632 21695_63221696ins9 7NC_000007.13:g.63 221695_63221696ins 97 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 63,221,695 | 63,221,695 |