nsv6625527
- 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:61,396
- 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: 544 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 544 SVs from 76 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625527 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 105,485,125 | 105,546,520 |
nsv6625527 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 106,027,747 | 106,089,142 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18310135 | duplication | OSC7215 | SNP array | Probe signal intensity | 12 |
nssv18310227 | duplication | OSC7272 | SNP array | Probe signal intensity | 8 |
nssv18314114 | duplication | OSC7833 | SNP array | Probe signal intensity | 10 |
nssv18319020 | duplication | OSC8674 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18310135 | Remapped | Perfect | NC_000001.11:g.(?_ 105485125)_(105546 520_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,485,125 | 105,546,520 |
nssv18310227 | Remapped | Perfect | NC_000001.11:g.(?_ 105485125)_(105546 520_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,485,125 | 105,546,520 |
nssv18314114 | Remapped | Perfect | NC_000001.11:g.(?_ 105485125)_(105546 520_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,485,125 | 105,546,520 |
nssv18319020 | Remapped | Perfect | NC_000001.11:g.(?_ 105485125)_(105546 520_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 105,485,125 | 105,546,520 |
nssv18310135 | Submitted genomic | NC_000001.10:g.(?_ 106027747)_(106089 142_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 106,027,747 | 106,089,142 | ||
nssv18310227 | Submitted genomic | NC_000001.10:g.(?_ 106027747)_(106089 142_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 106,027,747 | 106,089,142 | ||
nssv18314114 | Submitted genomic | NC_000001.10:g.(?_ 106027747)_(106089 142_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 106,027,747 | 106,089,142 | ||
nssv18319020 | Submitted genomic | NC_000001.10:g.(?_ 106027747)_(106089 142_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 106,027,747 | 106,089,142 |