nsv3955087
- 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: 180 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3955087 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 12,694,998 | 12,694,998 |
| nsv3955087 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315920.1 | Chr5|NW_00 3315920.1 | 48,994 | 48,994 |
| nsv3955087 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 12,695,110 | 12,695,110 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15201453 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15201453 | Remapped | Perfect | NW_003315920.1:g.4 8994_48995ins90 | GRCh38.p12 | Second Pass | NW_003315920.1 | Chr5|NW_00 3315920.1 | 48,994 | 48,994 |
| nssv15201453 | Remapped | Perfect | NC_000005.10:g.126 94998_12694999ins9 0 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 12,694,998 | 12,694,998 |
| nssv15201453 | Submitted genomic | NC_000005.9:g.1269 5110_12695111ins90 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 12,695,110 | 12,695,110 |