nsv3318511
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,417
- Publication(s):Frenkel 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: 268 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 52 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3318511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 126,964,680 | 127,043,096 |
nsv3318511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 126,683,523 | 126,761,939 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14467667 | copy number gain | M1206 | SNP array | SNP genotyping analysis | 63 |
nssv14468108 | copy number gain | M2129 | SNP array | SNP genotyping analysis | 38 |
nssv14469686 | copy number gain | M2258 | SNP array | SNP genotyping analysis | 31 |
nssv14470390 | copy number gain | M2337 | SNP array | SNP genotyping analysis | 36 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14467667 | Remapped | Perfect | NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 126,964,680 | 127,043,096 |
nssv14468108 | Remapped | Perfect | NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 126,964,680 | 127,043,096 |
nssv14469686 | Remapped | Perfect | NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 126,964,680 | 127,043,096 |
nssv14470390 | Remapped | Perfect | NC_000003.12:g.(?_ 126964680)_(127043 096_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 126,964,680 | 127,043,096 |
nssv14467667 | Submitted genomic | NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 126,683,523 | 126,761,939 | ||
nssv14468108 | Submitted genomic | NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 126,683,523 | 126,761,939 | ||
nssv14469686 | Submitted genomic | NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 126,683,523 | 126,761,939 | ||
nssv14470390 | Submitted genomic | NC_000003.11:g.(?_ 126683523)_(126761 939_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 126,683,523 | 126,761,939 |