nsv3955129
- 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: 233 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3955129 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,021,972 | 242,021,972 |
| nsv3955129 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 65,685 | 65,685 |
| nsv3955129 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 66,042 | 66,042 |
| nsv3955129 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,964,123 | 242,964,123 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15188142 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15188142 | Remapped | Perfect | NT_187647.1:g.6568 5_65686ins124 | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 65,685 | 65,685 |
| nssv15188142 | Remapped | Perfect | NT_187523.1:g.6604 2_66043ins124 | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 66,042 | 66,042 |
| nssv15188142 | Remapped | Perfect | NC_000002.12:g.242 021972_242021973in s124 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,021,972 | 242,021,972 |
| nssv15188142 | Submitted genomic | NC_000002.11:g.242 964123_242964124in s124 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,964,123 | 242,964,123 |