nsv4385137
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:28
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56,306
- 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: 715 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 715 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385137 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nsv4385137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615132 | copy number gain | 1-0747-003 | SNP array | Genotyping | 19 |
| nssv15615882 | copy number gain | 1-0789-003 | SNP array | Genotyping | 18 |
| nssv15621535 | copy number gain | 1-1003-003 | SNP array | Genotyping | 15 |
| nssv15624154 | copy number gain | 1-0261-004 | SNP array | Genotyping | 26 |
| nssv15624520 | copy number gain | 1-0299-001 | SNP array | Genotyping | 23 |
| nssv15625908 | copy number gain | 1-0414-008 | SNP array | Genotyping | 20 |
| nssv15627978 | copy number gain | 1-0514-005 | SNP array | Genotyping | 12 |
| nssv15629278 | copy number gain | 1-0539-004 | SNP array | Genotyping | 22 |
| nssv15630571 | copy number gain | 1-0595-005 | SNP array | Genotyping | 21 |
| nssv15631284 | copy number gain | 1-0616-005 | SNP array | Genotyping | 24 |
| nssv15645252 | copy number gain | 2-0126-003 | SNP array | Genotyping | 17 |
| nssv15645424 | copy number gain | 2-0171-004 | SNP array | Genotyping | 20 |
| nssv15652568 | copy number gain | 2-1561-003 | SNP array | Genotyping | 18 |
| nssv15657086 | copy number gain | 3-0778-000 | SNP array | Genotyping | 23 |
| nssv15664218 | copy number gain | 7-0050-003 | SNP array | Genotyping | 23 |
| nssv15665642 | copy number gain | 7-0082-003 | SNP array | Genotyping | 15 |
| nssv15673502 | copy number gain | 9-0032-003 | SNP array | Genotyping | 27 |
| nssv15675543 | copy number gain | 160172 | SNP array | Genotyping | 14 |
| nssv15676056 | copy number gain | 160689 | SNP array | Genotyping | 17 |
| nssv15678845 | copy number gain | 176005 | SNP array | Genotyping | 17 |
| nssv15685288 | copy number gain | OCD117-B_1698 | SNP array | Genotyping | 19 |
| nssv15686226 | copy number gain | OCD21-S_896392 | SNP array | Genotyping | 26 |
| nssv15686928 | copy number gain | OCD37-S_0625-0201-2 | SNP array | Genotyping | 24 |
| nssv15699636 | copy number gain | 168766 | SNP array | Genotyping | 24 |
| nssv15699944 | copy number gain | 200424 | SNP array | Genotyping | 20 |
| nssv15701188 | copy number gain | 179670 | SNP array | Genotyping | 18 |
| nssv15701990 | copy number gain | 199597 | SNP array | Genotyping | 18 |
| nssv15702371 | copy number gain | 200224 | SNP array | Genotyping | 16 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615132 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15615882 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15621535 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15624154 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15624520 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15625908 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15627978 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15629278 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15630571 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15631284 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15645252 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15645424 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15652568 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15657086 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15664218 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15665642 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15673502 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15675543 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15676056 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15678845 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15685288 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15686226 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15686928 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15699636 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15699944 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15701188 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15701990 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15702371 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181003 789_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,003,789 |
| nssv15615132 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15615882 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15621535 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15624154 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15624520 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15625908 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15627978 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15629278 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15630571 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15631284 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15645252 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15645424 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15652568 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15657086 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15664218 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15665642 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15673502 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15675543 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15676056 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15678845 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15685288 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15686226 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15686928 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15699636 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15699944 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15701188 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15701990 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 | ||
| nssv15702371 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804307 89_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,430,789 |