nsv4372155
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:63,634
- 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: 750 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 750 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4372155 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nsv4372155 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612767 | copy number gain | 1-0650-003 | SNP array | Genotyping | 18 |
| nssv15613193 | copy number gain | 1-0677-003 | SNP array | Genotyping | 18 |
| nssv15619077 | copy number gain | 1-0913-003 | SNP array | Genotyping | 25 |
| nssv15622728 | copy number gain | 1-1025-003 | SNP array | Genotyping | 21 |
| nssv15623313 | copy number gain | 1-0244-002 | SNP array | Genotyping | 17 |
| nssv15625093 | copy number gain | 1-0375-002 | SNP array | Genotyping | 19 |
| nssv15629665 | copy number gain | 1-0568-001 | SNP array | Genotyping | 21 |
| nssv15635918 | copy number gain | 12-4261-001 | SNP array | Genotyping | 20 |
| nssv15637056 | copy number gain | 14-0024-004 | SNP array | Genotyping | 25 |
| nssv15658024 | copy number gain | 3-0536-000 | SNP array | Genotyping | 12 |
| nssv15662518 | copy number gain | 5-0050-004 | SNP array | Genotyping | 17 |
| nssv15673429 | copy number gain | 9-0031-002 | SNP array | Genotyping | 20 |
| nssv15675361 | copy number gain | 232822S | SNP array | Genotyping | 20 |
| nssv15676449 | copy number gain | 234386S | SNP array | Genotyping | 20 |
| nssv15677675 | copy number gain | 232713S | SNP array | Genotyping | 24 |
| nssv15679153 | copy number gain | 182133 | SNP array | Genotyping | 17 |
| nssv15680345 | copy number gain | 225331 | SNP array | Genotyping | 29 |
| nssv15680360 | copy number gain | 238144S | SNP array | Genotyping | 19 |
| nssv15681249 | copy number gain | 214415S | SNP array | Genotyping | 18 |
| nssv15684170 | copy number gain | OCD107-1632 | SNP array | Genotyping | 20 |
| nssv15686664 | copy number gain | OCD16-B_BW-1425 | SNP array | Genotyping | 18 |
| nssv15686820 | copy number gain | OCD27-S_896532 | SNP array | Genotyping | 17 |
| nssv15688909 | copy number gain | 225326 | SNP array | Genotyping | 17 |
| nssv15688946 | copy number gain | 225325 | SNP array | Genotyping | 19 |
| nssv15688963 | copy number gain | 225334 | SNP array | Genotyping | 19 |
| nssv15694507 | copy number gain | OCD91-0625-7618-1 | SNP array | Genotyping | 18 |
| nssv15696508 | copy number gain | 159366 | SNP array | Genotyping | 19 |
| nssv15701332 | copy number gain | 188919 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612767 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15613193 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15619077 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15622728 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15623313 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15625093 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15629665 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15635918 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15637056 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15658024 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15662518 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15673429 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15675361 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15676449 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15677675 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15679153 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15680345 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15680360 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15681249 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15684170 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15686664 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15686820 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15688909 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15688946 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15688963 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15694507 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15696508 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15701332 | Remapped | Perfect | NC_000005.10:g.(?_ 180951754)_(181015 387_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,951,754 | 181,015,387 |
| nssv15612767 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15613193 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15619077 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15622728 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15623313 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15625093 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15629665 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15635918 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15637056 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15658024 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15662518 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15673429 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15675361 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15676449 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15677675 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15679153 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15680345 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15680360 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15681249 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15684170 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15686664 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15686820 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15688909 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15688946 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15688963 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15694507 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15696508 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 | ||
| nssv15701332 | Submitted genomic | NC_000005.9:g.(?_1 80378754)_(1804423 87_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,378,754 | 180,442,387 |