nsv4386552
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:87,248
- 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: 517 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 425 SVs from 46 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386552 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nsv4386552 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619754 | copy number gain | 1-0906-003 | SNP array | Genotyping | 26 |
| nssv15622033 | copy number gain | 1-0208-002 | SNP array | Genotyping | 22 |
| nssv15627792 | copy number gain | 1-0543-002 | SNP array | Genotyping | 26 |
| nssv15633603 | copy number gain | 11-0032-003 | SNP array | Genotyping | 17 |
| nssv15635690 | copy number gain | 11-0052-003 | SNP array | Genotyping | 20 |
| nssv15639954 | copy number gain | 14-0258-001 | SNP array | Genotyping | 23 |
| nssv15639996 | copy number gain | 14-0258-003 | SNP array | Genotyping | 14 |
| nssv15642299 | copy number gain | 14-0385-001 | SNP array | Genotyping | 23 |
| nssv15643213 | copy number gain | 14-0361-004 | SNP array | Genotyping | 10 |
| nssv15644741 | copy number gain | 16-1001-003 | SNP array | Genotyping | 29 |
| nssv15645413 | copy number gain | 2-0171-004 | SNP array | Genotyping | 20 |
| nssv15649562 | copy number gain | 2-1464-004 | SNP array | Genotyping | 24 |
| nssv15654052 | copy number gain | 2-1690-001 | SNP array | Genotyping | 15 |
| nssv15656002 | copy number gain | 3-0526-000 | SNP array | Genotyping | 17 |
| nssv15656956 | copy number gain | 3-0668-000 | SNP array | Genotyping | 24 |
| nssv15662090 | copy number gain | 5-0084-004 | SNP array | Genotyping | 19 |
| nssv15663072 | copy number gain | 4-0049-004 | SNP array | Genotyping | 15 |
| nssv15665035 | copy number gain | 14AG1601 | SNP array | Genotyping | 24 |
| nssv15667418 | copy number gain | 7-0185-003 | SNP array | Genotyping | 20 |
| nssv15673218 | copy number gain | 9-0036-002 | SNP array | Genotyping | 24 |
| nssv15674255 | copy number gain | 9-0024-001 | SNP array | Genotyping | 21 |
| nssv15676249 | copy number gain | 154731 | SNP array | Genotyping | 18 |
| nssv15678280 | copy number gain | 168475 | SNP array | Genotyping | 22 |
| nssv15678646 | copy number gain | 165011 | SNP array | Genotyping | 30 |
| nssv15683792 | copy number gain | OCD13-S_896242 | SNP array | Genotyping | 29 |
| nssv15688872 | copy number gain | 222691 | SNP array | Genotyping | 27 |
| nssv15689219 | copy number gain | OCD1-B_JA-1325 | SNP array | Genotyping | 18 |
| nssv15692688 | copy number gain | OCD53-S_0625-8346-3 | SNP array | Genotyping | 17 |
| nssv15695771 | copy number gain | 205688 | SNP array | Genotyping | 18 |
| nssv15699990 | copy number gain | 169623 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619754 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15622033 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15627792 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15633603 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15635690 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15639954 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15639996 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15642299 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15643213 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15644741 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15645413 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15649562 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15654052 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15656002 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15656956 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15662090 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15663072 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15665035 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15667418 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15673218 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15674255 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15676249 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15678280 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15678646 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15683792 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15688872 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15689219 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15692688 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15695771 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15699990 | Remapped | Perfect | NC_000011.10:g.(?_ 54934036)_(5502128 3_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 54,934,036 | 55,021,283 |
| nssv15619754 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15622033 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15627792 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15633603 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15635690 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15639954 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15639996 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15642299 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15643213 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15644741 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15645413 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15649562 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15654052 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15656002 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15656956 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15662090 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15663072 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15665035 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15667418 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15673218 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15674255 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15676249 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15678280 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15678646 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15683792 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15688872 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15689219 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15692688 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15695771 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 | ||
| nssv15699990 | Submitted genomic | NC_000011.9:g.(?_5 4701512)_(54788759 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 54,701,512 | 54,788,759 |