nsv6631124
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:245,398
- 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: 1895 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1895 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631124 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nsv6631124 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283022 | duplication | OSC2374 | SNP array | Probe signal intensity | 7 |
nssv18283978 | duplication | OSC2401 | SNP array | Probe signal intensity | 8 |
nssv18284934 | duplication | OSC2641 | SNP array | Probe signal intensity | 7 |
nssv18286839 | duplication | OSC3095 | SNP array | Probe signal intensity | 6 |
nssv18291195 | duplication | OSC3595 | SNP array | Probe signal intensity | 8 |
nssv18291857 | duplication | OSC3884 | SNP array | Probe signal intensity | 8 |
nssv18293674 | duplication | OSC4028 | SNP array | Probe signal intensity | 5 |
nssv18322857 | duplication | OSC1480 | SNP array | Probe signal intensity | nssv18323408, nssv18323409, nssv18323410 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283022 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18283978 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18284934 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18286839 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18291195 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18291857 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18293674 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18322857 | Remapped | Perfect | NC_000006.12:g.(?_ 167947879)_(168193 276_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 167,947,879 | 168,193,276 |
nssv18283022 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18283978 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18284934 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18286839 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18291195 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18291857 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18293674 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 | ||
nssv18322857 | Submitted genomic | NC_000006.11:g.(?_ 168348559)_(168593 956_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 168,348,559 | 168,593,956 |