nsv4384072
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,892
- 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: 710 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 710 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4384072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nsv4384072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15612578 | copy number gain | 1-0699-003 | SNP array | Genotyping | 19 |
nssv15614120 | copy number gain | 1-0731-002 | SNP array | Genotyping | 20 |
nssv15616688 | copy number gain | 1-0025-002 | SNP array | Genotyping | 30 |
nssv15619776 | copy number gain | 1-0907-003 | SNP array | Genotyping | 25 |
nssv15626942 | copy number gain | 1-0458-001 | SNP array | Genotyping | 20 |
nssv15627142 | copy number gain | 1-0459-004 | SNP array | Genotyping | 24 |
nssv15627414 | copy number gain | 1-0539-003 | SNP array | Genotyping | 16 |
nssv15628068 | copy number gain | 1-0059-002 | SNP array | Genotyping | 19 |
nssv15628379 | copy number gain | 1-0517-008 | SNP array | Genotyping | 19 |
nssv15628639 | copy number gain | 1-0538-004 | SNP array | Genotyping | 21 |
nssv15632777 | copy number gain | 10-0008-001 | SNP array | Genotyping | 27 |
nssv15639363 | copy number gain | 14-0179-004 | SNP array | Genotyping | 23 |
nssv15640364 | copy number gain | 14-0152-001 | SNP array | Genotyping | 22 |
nssv15642104 | copy number gain | 15-1130-003 | SNP array | Genotyping | 18 |
nssv15646152 | copy number gain | 16-1023-003 | SNP array | Genotyping | 26 |
nssv15654908 | copy number gain | 2-1631-001 | SNP array | Genotyping | 21 |
nssv15656514 | copy number gain | 2-1753-003 | SNP array | Genotyping | 19 |
nssv15657010 | copy number gain | 3-0706-000 | SNP array | Genotyping | 22 |
nssv15661232 | copy number gain | 5-0061-001 | SNP array | Genotyping | 21 |
nssv15663619 | copy number gain | 5-1005-003 | SNP array | Genotyping | 21 |
nssv15664092 | copy number gain | 231670 | SNP array | Genotyping | 14 |
nssv15668801 | copy number gain | 7-0228-003 | SNP array | Genotyping | 18 |
nssv15669471 | copy number gain | 7-0243-003 | SNP array | Genotyping | 24 |
nssv15672333 | copy number gain | 7-0312-003 | SNP array | Genotyping | 22 |
nssv15675555 | copy number gain | 169695 | SNP array | Genotyping | 14 |
nssv15677032 | copy number gain | 216467 | SNP array | Genotyping | 16 |
nssv15682653 | copy number gain | OCD1126-B_1628 | SNP array | Genotyping | 13 |
nssv15686710 | copy number gain | OCD24-S_896441 | SNP array | Genotyping | 21 |
nssv15689259 | copy number gain | OCD1-B_LA-1326 | SNP array | Genotyping | 15 |
nssv15691504 | copy number gain | OCD44-B_KH-1375 | SNP array | Genotyping | 19 |
nssv15698381 | copy number gain | 165194 | SNP array | Genotyping | 29 |
nssv15701440 | copy number gain | 180692 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15612578 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15614120 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15616688 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15619776 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15626942 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15627142 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15627414 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15628068 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15628379 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15628639 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15632777 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15639363 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15640364 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15642104 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15646152 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15654908 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15656514 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15657010 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15661232 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15663619 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15664092 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15668801 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15669471 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15672333 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15675555 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15677032 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15682653 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15686710 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15689259 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15691504 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15698381 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15701440 | Remapped | Perfect | NC_000005.10:g.(?_ 180947898)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,898 | 181,003,789 |
nssv15612578 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15614120 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15616688 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15619776 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15626942 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15627142 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15627414 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15628068 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15628379 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15628639 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15632777 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15639363 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15640364 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15642104 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15646152 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15654908 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15656514 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15657010 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15661232 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15663619 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15664092 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15668801 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15669471 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15672333 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15675555 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15677032 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15682653 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15686710 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15689259 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15691504 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15698381 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 | ||
nssv15701440 | Submitted genomic | NC_000005.9:g.(?_1 80374898)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,898 | 180,430,789 |