nsv6630771
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:247,693
- Publication(s):Zarrei et al. 2023
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: 1898 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1898 SVs from 96 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6630771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,195,571 |
nsv6630771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 168,348,559 | 168,596,251 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18286508 | duplication | OSC0297 | SNP array | Probe signal intensity | 5 |
nssv18291175 | duplication | OSC3584 | SNP array | Probe signal intensity | 8 |
nssv18315733 | duplication | OSC0850 | SNP array | Probe signal intensity | 8 |
nssv18323036 | duplication | OSC1414 | SNP array | Probe signal intensity | nssv18322382, nssv18322769 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18286508 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168195 571_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,195,571 |
nssv18291175 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168195 571_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,195,571 |
nssv18315733 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168195 571_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,195,571 |
nssv18323036 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168195 571_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,195,571 |
nssv18286508 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168596 251_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,596,251 | ||
nssv18291175 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168596 251_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,596,251 | ||
nssv18315733 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168596 251_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,596,251 | ||
nssv18323036 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168596 251_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,596,251 |