nsv4365562
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,131,206
- 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: 8218 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 3450 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4365562 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nsv4365562 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612765 | copy number gain | 1-0652-003 | SNP array | Genotyping | 12 |
| nssv15625296 | copy number gain | 1-0291-005 | SNP array | Genotyping | 22 |
| nssv15628538 | copy number loss | 1-0553-001 | SNP array | Genotyping | 29 |
| nssv15628814 | copy number loss | 1-0553-004 | SNP array | Genotyping | 25 |
| nssv15665481 | copy number gain | 7-0062-003 | SNP array | Genotyping | 32 |
| nssv15669725 | copy number gain | 7-0239-003 | SNP array | Genotyping | 23 |
| nssv15674373 | copy number gain | 9-0034-003 | SNP array | Genotyping | 21 |
| nssv15676654 | copy number gain | 124571 | SNP array | Genotyping | 24 |
| nssv15682311 | copy number loss | OCD11-S_896192 | SNP array | Genotyping | 17 |
| nssv15688494 | copy number gain | OCD33-S_896591 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612765 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15625296 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15628538 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15628814 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15665481 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15669725 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15674373 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15676654 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15682311 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15688494 | Remapped | Pass | NC_000010.11:g.(?_ 45792374)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 45,792,374 | 47,923,579 |
| nssv15612765 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15625296 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15628538 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15628814 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15665481 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15669725 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15674373 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15676654 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15682311 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 | ||
| nssv15688494 | Submitted genomic | NC_000010.10:g.(?_ 46287822)_(4714941 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 46,287,822 | 47,149,411 |