nsv4369305
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,183
- Publication(s):Zarrei et al. 2019
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: 833 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 833 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369305 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nsv4369305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15675564 | copy number gain | 169657 | SNP array | Genotyping | 19 |
| nssv15675602 | copy number gain | 171442 | SNP array | Genotyping | 29 |
| nssv15677403 | copy number loss | 160174 | SNP array | Genotyping | 21 |
| nssv15678605 | copy number gain | 162486 | SNP array | Genotyping | 23 |
| nssv15678832 | copy number gain | 176005 | SNP array | Genotyping | 17 |
| nssv15693988 | copy number gain | 150365 | SNP array | Genotyping | 19 |
| nssv15695135 | copy number gain | 160593 | SNP array | Genotyping | 17 |
| nssv15696059 | copy number gain | 155362 | SNP array | Genotyping | 22 |
| nssv15696538 | copy number gain | 178826 | SNP array | Genotyping | 20 |
| nssv15699819 | copy number loss | 162780 | SNP array | Genotyping | 22 |
| nssv15701229 | copy number gain | 183057 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15675564 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15675602 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15677403 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15678605 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15678832 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15693988 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15695135 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15696059 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15696538 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15699819 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15701229 | Remapped | Perfect | NC_000011.10:g.(?_ 18919650)_(1894983 2_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 18,919,650 | 18,949,832 |
| nssv15675564 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15675602 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15677403 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15678605 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15678832 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15693988 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15695135 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15696059 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15696538 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15699819 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 | ||
| nssv15701229 | Submitted genomic | NC_000011.9:g.(?_1 8941197)_(18971379 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 18,941,197 | 18,971,379 |