nsv4369134
- 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:109,977
- 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 77 studies. See in: genome view
Overlapping variant regions from other studies: 834 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4369134 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nsv4369134 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612790 | copy number gain | 1-0652-004 | SNP array | Genotyping | 15 |
| nssv15619643 | copy number gain | 1-0955-003 | SNP array | Genotyping | 22 |
| nssv15641386 | copy number gain | 14-0349-001 | SNP array | Genotyping | 23 |
| nssv15648136 | copy number gain | 2-1352-002 | SNP array | Genotyping | 24 |
| nssv15649909 | copy number gain | 2-1360-002 | SNP array | Genotyping | 23 |
| nssv15651113 | copy number gain | 2-1415-005 | SNP array | Genotyping | 14 |
| nssv15655101 | copy number gain | 2-1686-003 | SNP array | Genotyping | 23 |
| nssv15660951 | copy number gain | 4-0054-003 | SNP array | Genotyping | 25 |
| nssv15672321 | copy number gain | 7-0312-003 | SNP array | Genotyping | 22 |
| nssv15690451 | copy number gain | OCD143-MH-1300(189271) | SNP array | Genotyping | 18 |
| nssv15694475 | copy number gain | OCD9-S_896151 | SNP array | Genotyping | 22 |
| nssv15701802 | copy number gain | 215691 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612790 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15619643 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15641386 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15648136 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15649909 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15651113 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15655101 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15660951 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15672321 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15690451 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15694475 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15701802 | Remapped | Perfect | NC_000012.12:g.(?_ 19314225)_(1942420 1_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 19,314,225 | 19,424,201 |
| nssv15612790 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15619643 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15641386 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15648136 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15649909 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15651113 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15655101 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15660951 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15672321 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15690451 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15694475 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 | ||
| nssv15701802 | Submitted genomic | NC_000012.11:g.(?_ 19467159)_(1957713 5_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 19,467,159 | 19,577,135 |