nsv4370796
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:34
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,500
- 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: 709 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 709 SVs from 78 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4370796 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nsv4370796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15619445 | copy number gain | 1-0922-003 | SNP array | Genotyping | 16 |
nssv15620660 | copy number gain | 1-0976-004 | SNP array | Genotyping | 21 |
nssv15620795 | copy number gain | 1-0957-003 | SNP array | Genotyping | 20 |
nssv15627602 | copy number gain | 1-0004-004 | SNP array | Genotyping | 20 |
nssv15629260 | copy number gain | 1-0574-004 | SNP array | Genotyping | 19 |
nssv15629685 | copy number gain | 1-0568-002 | SNP array | Genotyping | 20 |
nssv15633220 | copy number gain | 11-0013-003 | SNP array | Genotyping | 24 |
nssv15634445 | copy number gain | 11-0041-003 | SNP array | Genotyping | 19 |
nssv15640638 | copy number gain | 14-0344-003 | SNP array | Genotyping | 33 |
nssv15648234 | copy number gain | 2-1235-004 | SNP array | Genotyping | 19 |
nssv15651287 | copy number gain | 2-1370-002 | SNP array | Genotyping | 14 |
nssv15662486 | copy number gain | 5-0049-003 | SNP array | Genotyping | 27 |
nssv15665558 | copy number gain | 7-0107-001 | SNP array | Genotyping | 18 |
nssv15668021 | copy number gain | 7-0163-003 | SNP array | Genotyping | 16 |
nssv15670049 | copy number gain | 7-0254-004 | SNP array | Genotyping | 17 |
nssv15670738 | copy number gain | 7-0242-003 | SNP array | Genotyping | 18 |
nssv15672610 | copy number gain | 9-0011-002 | SNP array | Genotyping | 18 |
nssv15674809 | copy number gain | 206771 | SNP array | Genotyping | 18 |
nssv15675071 | copy number gain | 217292 | SNP array | Genotyping | 27 |
nssv15675777 | copy number gain | 172011 | SNP array | Genotyping | 19 |
nssv15679261 | copy number gain | 205647 | SNP array | Genotyping | 22 |
nssv15683282 | copy number gain | OCD1008-0625-6107-3 | SNP array | Genotyping | 17 |
nssv15685708 | copy number gain | OCD17-S_896322 | SNP array | Genotyping | 23 |
nssv15685744 | copy number gain | OCD170-DJ-375_1808 | SNP array | Genotyping | 17 |
nssv15686288 | copy number gain | OCD3-S_896083 | SNP array | Genotyping | 27 |
nssv15686873 | copy number gain | OCD35-S_0555-6300-2 | SNP array | Genotyping | 18 |
nssv15687488 | copy number gain | OCD162-896231 | SNP array | Genotyping | 9 |
nssv15690847 | copy number gain | OCD170-RM-1810 | SNP array | Genotyping | 18 |
nssv15693917 | copy number gain | OCD97-1398 | SNP array | Genotyping | 19 |
nssv15694050 | copy number gain | 209719 | SNP array | Genotyping | 15 |
nssv15695035 | copy number gain | 187365 | SNP array | Genotyping | 11 |
nssv15699268 | copy number gain | 224902 | SNP array | Genotyping | 16 |
nssv15700749 | copy number gain | 158445 | SNP array | Genotyping | 23 |
nssv15701618 | copy number gain | 223693 | SNP array | Genotyping | 8 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15619445 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15620660 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15620795 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15627602 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15629260 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15629685 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15633220 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15634445 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15640638 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15648234 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15651287 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15662486 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15665558 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15668021 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15670049 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15670738 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15672610 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15674809 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15675071 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15675777 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15679261 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15683282 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15685708 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15685744 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15686288 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15686873 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15687488 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15690847 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15693917 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15694050 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15695035 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15699268 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15700749 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15701618 | Remapped | Perfect | NC_000005.10:g.(?_ 180948290)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,948,290 | 181,003,789 |
nssv15619445 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15620660 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15620795 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15627602 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15629260 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15629685 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15633220 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15634445 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15640638 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15648234 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15651287 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15662486 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15665558 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15668021 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15670049 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15670738 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15672610 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15674809 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15675071 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15675777 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15679261 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15683282 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15685708 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15685744 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15686288 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15686873 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15687488 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15690847 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15693917 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15694050 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15695035 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15699268 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15700749 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 | ||
nssv15701618 | Submitted genomic | NC_000005.9:g.(?_1 80375290)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,375,290 | 180,430,789 |