nsv4387844
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78,971
- 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: 2363 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2370 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387844 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nsv4387844 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617690 | copy number gain | 1-0837-003 | SNP array | Genotyping | 30 |
| nssv15622496 | copy number gain | 1-0219-002 | SNP array | Genotyping | 17 |
| nssv15646666 | copy number gain | 2-1272-004 | SNP array | Genotyping | 16 |
| nssv15665374 | copy number gain | 7-0033-003 | SNP array | Genotyping | 17 |
| nssv15668432 | copy number gain | 7-0205-003 | SNP array | Genotyping | 17 |
| nssv15668789 | copy number gain | 7-0228-003 | SNP array | Genotyping | 18 |
| nssv15688935 | copy number gain | 225325 | SNP array | Genotyping | 19 |
| nssv15696099 | copy number gain | 155473 | SNP array | Genotyping | 18 |
| nssv15698364 | copy number gain | 165194 | SNP array | Genotyping | 29 |
| nssv15699357 | copy number gain | 171099 | SNP array | Genotyping | 20 |
| nssv15699759 | copy number gain | 226267 | SNP array | Genotyping | 35 |
| nssv15699888 | copy number gain | 181146 | SNP array | Genotyping | 24 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617690 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15622496 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15646666 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15665374 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15668432 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15668789 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15688935 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15696099 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15698364 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15699357 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15699759 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15699888 | Remapped | Perfect | NC_000011.10:g.(?_ 55595859)_(5567482 9_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 55,595,859 | 55,674,829 |
| nssv15617690 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15622496 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15646666 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15665374 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15668432 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15668789 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15688935 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15696099 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15698364 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15699357 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15699759 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 | ||
| nssv15699888 | Submitted genomic | NC_000011.9:g.(?_5 5363335)_(55442305 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 55,363,335 | 55,442,305 |