nsv6631826
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,764
- 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: 146 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6631826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nsv6631826 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18283969 | duplication | OSC0249 | SNP array | Probe signal intensity | 9 |
nssv18290425 | duplication | OSC3677 | SNP array | Probe signal intensity | nssv18291316 |
nssv18317289 | duplication | OSC0877 | SNP array | Probe signal intensity | 9 |
nssv18320901 | duplication | OSC1004 | SNP array | Probe signal intensity | 7 |
nssv18322861 | duplication | OSC1482 | SNP array | Probe signal intensity | 15 |
nssv18323787 | duplication | OSC1754 | SNP array | Probe signal intensity | 10 |
nssv18325958 | duplication | OSC1983 | SNP array | Probe signal intensity | nssv18326095, nssv18325956 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18283969 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18290425 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18317289 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18320901 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18322861 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18323787 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18325958 | Remapped | Perfect | NC_000007.14:g.(?_ 123100922)_(123114 685_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 123,100,922 | 123,114,685 |
nssv18283969 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18290425 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18317289 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18320901 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18322861 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18323787 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 | ||
nssv18325958 | Submitted genomic | NC_000007.13:g.(?_ 122740976)_(122754 739_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 122,740,976 | 122,754,739 |