nsv6624132
- 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:10,000
- 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: 212 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 212 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6624132 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nsv6624132 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18287913 | duplication | OSC3194 | SNP array | Probe signal intensity | 11 |
nssv18289195 | duplication | OSC3455 | SNP array | Probe signal intensity | nssv18289194, nssv18289762, nssv18289763 |
nssv18300714 | duplication | OSC0582 | SNP array | Probe signal intensity | 14 |
nssv18312148 | duplication | OSC0775 | SNP array | Probe signal intensity | 6 |
nssv18315140 | duplication | OSC0852 | SNP array | Probe signal intensity | 14 |
nssv18319510 | duplication | OSC0901 | SNP array | Probe signal intensity | 14 |
nssv18322748 | duplication | OSC1400 | SNP array | Probe signal intensity | 5 |
nssv18322817 | duplication | OSC1448 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18287913 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18289195 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18300714 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18312148 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18315140 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18319510 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18322748 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18322817 | Remapped | Perfect | NC_000018.10:g.(?_ 13731521)_(1374152 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 13,731,521 | 13,741,520 |
nssv18287913 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18289195 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18300714 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18312148 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18315140 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18319510 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18322748 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 | ||
nssv18322817 | Submitted genomic | NC_000018.9:g.(?_1 3731520)_(13741519 _?)dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 13,731,520 | 13,741,519 |