nsv3377968
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:74,500
- 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: 391 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 391 SVs from 76 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3377968 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 111,410,101 (-100, +100) | 111,484,600 (-100, +100) | ||
nsv3377968 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 112,167,678 (-100, +100) | 112,242,177 (-100, +100) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14626521 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14626521 | Submitted genomic | NC_000002.12:g.(11 1410001_111410201) _(111484500_111484 700)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 111,410,101 (-100, +100) | 111,484,600 (-100, +100) | ||
nssv14626521 | Remapped | Perfect | NC_000002.11:g.(11 2167578_112167778) _(112242077_112242 277)dupNC_000002.1 1:g.(112167578_112 167778)_(112242077 _112242277)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 112,167,678 (-100, +100) | 112,242,177 (-100, +100) |