nsv3955092
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Wenger 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: 122 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3955092 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 82,972,300 | 82,972,300 |
| nsv3955092 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 129,158 | 129,158 |
| nsv3955092 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 80,930,176 | 80,930,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15185838 | insertion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15185838 | Remapped | Perfect | NT_187612.1:g.1291 58_129159insACCACA CCACACCACAGGGGCCAG AAGGACCTGGTGCC | GRCh38.p12 | Second Pass | NT_187612.1 | Chr17|NT_1 87612.1 | 129,158 | 129,158 |
| nssv15185838 | Remapped | Perfect | NC_000017.11:g.829 72300_82972301insA CCACACCACACCACAGGG GCCAGAAGGACCTGGTGC C | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 82,972,300 | 82,972,300 |
| nssv15185838 | Submitted genomic | NC_000017.10:g.809 30176_80930177insA CCACACCACACCACAGGG GCCAGAAGGACCTGGTGC C | GRCh37 (hg19) | NC_000017.10 | Chr17 | 80,930,176 | 80,930,176 |