nsv4383253
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:58,953
- 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: 1084 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 861 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1084 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4383253 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,346,974 |
| nsv4383253 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 68,199 |
| nsv4383253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,762,663 | 72,812,657 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621447 | copy number loss | 1-1017-003 | SNP array | Genotyping | 20 |
| nssv15621489 | copy number loss | 1-1020-002 | SNP array | Genotyping | 14 |
| nssv15628942 | copy number loss | 1-0543-004 | SNP array | Genotyping | 15 |
| nssv15630867 | copy number loss | 1-0627-002 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621447 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(68199_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 68,199 |
| nssv15621489 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(68199_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 68,199 |
| nssv15628942 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(68199_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 68,199 |
| nssv15630867 | Remapped | Pass | NW_018654707.1:g.( ?_9247)_(68199_?)d el | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 9,247 | 68,199 |
| nssv15621447 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234697 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,346,974 |
| nssv15621489 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234697 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,346,974 |
| nssv15628942 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234697 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,346,974 |
| nssv15630867 | Remapped | Perfect | NC_000001.11:g.(?_ 72296980)_(7234697 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,296,980 | 72,346,974 |
| nssv15621447 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7281265 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,812,657 | ||
| nssv15621489 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7281265 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,812,657 | ||
| nssv15628942 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7281265 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,812,657 | ||
| nssv15630867 | Submitted genomic | NC_000001.10:g.(?_ 72762663)_(7281265 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,762,663 | 72,812,657 |