nsv6623123
- 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:135,669
- 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: 580 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 580 SVs from 59 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6623123 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 57,343,521 | 57,479,189 |
nsv6623123 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 57,635,719 | 57,771,387 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18315577 | duplication | OSC0840 | SNP array | Probe signal intensity | 8 |
nssv18319914 | duplication | OSC0942 | SNP array | Probe signal intensity | 6 |
nssv18320810 | duplication | OSC0936 | SNP array | Probe signal intensity | nssv18320809, nssv18320257, nssv18320811 |
nssv18324991 | duplication | OSC0202 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18315577 | Remapped | Perfect | NC_000015.10:g.(?_ 57343521)_(5747918 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 57,343,521 | 57,479,189 |
nssv18319914 | Remapped | Perfect | NC_000015.10:g.(?_ 57343521)_(5747918 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 57,343,521 | 57,479,189 |
nssv18320810 | Remapped | Perfect | NC_000015.10:g.(?_ 57343521)_(5747918 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 57,343,521 | 57,479,189 |
nssv18324991 | Remapped | Perfect | NC_000015.10:g.(?_ 57343521)_(5747918 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 57,343,521 | 57,479,189 |
nssv18315577 | Submitted genomic | NC_000015.9:g.(?_5 7635719)_(57771387 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,635,719 | 57,771,387 | ||
nssv18319914 | Submitted genomic | NC_000015.9:g.(?_5 7635719)_(57771387 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,635,719 | 57,771,387 | ||
nssv18320810 | Submitted genomic | NC_000015.9:g.(?_5 7635719)_(57771387 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,635,719 | 57,771,387 | ||
nssv18324991 | Submitted genomic | NC_000015.9:g.(?_5 7635719)_(57771387 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 57,635,719 | 57,771,387 |