nsv3358754
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,936
- 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: 458 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 72 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3358754 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 55,788,551 | 55,808,486 | ||
nsv3358754 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 55,822,463 | 55,842,398 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14579312 | inversion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14581683 | inversion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
nssv14591326 | inversion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14579312 | Submitted genomic | NC_000016.10:g.557 88551_55808486inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 55,788,551 | 55,808,486 | ||
nssv14581683 | Submitted genomic | NC_000016.10:g.557 88551_55808486inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 55,788,551 | 55,808,486 | ||
nssv14591326 | Submitted genomic | NC_000016.10:g.557 88551_55808486inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 55,788,551 | 55,808,486 | ||
nssv14579312 | Remapped | Perfect | NC_000016.9:g.5582 2463_55842398invNC _000016.9:g.558224 63_55842398inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 55,822,463 | 55,842,398 |
nssv14581683 | Remapped | Perfect | NC_000016.9:g.5582 2463_55842398invNC _000016.9:g.558224 63_55842398inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 55,822,463 | 55,842,398 |
nssv14591326 | Remapped | Perfect | NC_000016.9:g.5582 2463_55842398invNC _000016.9:g.558224 63_55842398inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 55,822,463 | 55,842,398 |