nsv4381458
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58,943
- 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: 1091 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1091 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381458 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nsv4381458 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nsv4381458 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15629199 | copy number gain | 1-0566-002 | SNP array | Genotyping | 24 |
| nssv15630545 | copy number gain | 1-0576-003 | SNP array | Genotyping | 21 |
| nssv15641617 | copy number gain | 14-0243-001 | SNP array | Genotyping | 23 |
| nssv15648107 | copy number gain | 2-1352-001 | SNP array | Genotyping | 25 |
| nssv15649465 | copy number gain | 2-1402-001 | SNP array | Genotyping | 26 |
| nssv15661420 | copy number gain | 5-0083-003 | SNP array | Genotyping | 24 |
| nssv15665447 | copy number gain | 7-0061-003 | SNP array | Genotyping | 32 |
| nssv15665631 | copy number gain | 7-0082-003 | SNP array | Genotyping | 15 |
| nssv15691637 | copy number gain | OCD74-RM-249 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15629199 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15630545 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15641617 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15648107 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15649465 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15661420 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15665447 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15665631 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15691637 | Remapped | Pass | NW_018654707.1:g.( ?_9040)_(67982_?)d up | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,040 | 67,982 |
| nssv15629199 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15630545 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15641617 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15648107 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15649465 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15661420 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15665447 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15665631 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15691637 | Remapped | Perfect | NC_000001.11:g.(?_ 72296773)_(7234675 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,773 | 72,346,757 |
| nssv15629199 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15630545 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15641617 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15648107 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15649465 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15661420 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15665447 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15665631 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 | ||
| nssv15691637 | Submitted genomic | NC_000001.10:g.(?_ 72762456)_(7281244 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,456 | 72,812,440 |