nsv6136222
- Organism: Homo sapiens
- Study:nstd213 (Pham et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:155,156
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: 2001 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2001 SVs from 90 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv6136222 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,374,555 | 39,374,558 | 39,529,707 | 39,529,710 |
nsv6136222 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,232,074 | 39,232,077 | 39,387,226 | 39,387,229 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17678414 | deletion | SAMN20524658 | Sequencing | Paired-end mapping | 48 |
nssv17679021 | deletion | SAMN20524659 | Sequencing | Paired-end mapping | 203 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv17678414 | Remapped | Perfect | NC_000008.11:g.(39 374555_39374558)_( 39529707_39529710) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,374,555 | 39,374,558 | 39,529,707 | 39,529,710 |
nssv17679021 | Remapped | Perfect | NC_000008.11:g.(39 374555_39374558)_( 39529707_39529710) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,374,555 | 39,374,558 | 39,529,707 | 39,529,710 |
nssv17678414 | Submitted genomic | NC_000008.10:g.(39 232074_39232077)_( 39387226_39387229) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,232,074 | 39,232,077 | 39,387,226 | 39,387,229 | ||
nssv17679021 | Submitted genomic | NC_000008.10:g.(39 232074_39232077)_( 39387226_39387229) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,232,074 | 39,232,077 | 39,387,226 | 39,387,229 |