nsv4385079
- 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:20,877
- 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: 457 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 67 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4385079 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nsv4385079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611655 | copy number loss | 1-0653-001 | SNP array | Genotyping | 19 |
| nssv15614005 | copy number loss | 1-0727-003 | SNP array | Genotyping | 18 |
| nssv15614631 | copy number gain | 1-0735-003 | SNP array | Genotyping | 29 |
| nssv15618535 | copy number gain | 1-0901-004 | SNP array | Genotyping | 19 |
| nssv15619984 | copy number gain | 1-0949-003 | SNP array | Genotyping | 17 |
| nssv15623345 | copy number loss | 1-0244-004 | SNP array | Genotyping | 20 |
| nssv15624357 | copy number loss | 1-0045-002 | SNP array | Genotyping | 24 |
| nssv15627456 | copy number loss | 1-0483-001 | SNP array | Genotyping | 23 |
| nssv15633310 | copy number gain | 11-0018-003 | SNP array | Genotyping | 24 |
| nssv15633877 | copy number gain | 10-1149-003 | SNP array | Genotyping | 17 |
| nssv15634259 | copy number gain | 11-0004-003 | SNP array | Genotyping | 20 |
| nssv15639685 | copy number gain | 14-0144-003 | SNP array | Genotyping | 20 |
| nssv15643144 | copy number gain | 14-0326-003 | SNP array | Genotyping | 23 |
| nssv15652172 | copy number loss | 2-1522-003 | SNP array | Genotyping | 24 |
| nssv15652282 | copy number gain | 2-1558-003 | SNP array | Genotyping | 17 |
| nssv15652496 | copy number loss | 2-1526-001 | SNP array | Genotyping | 16 |
| nssv15653014 | copy number gain | 2-1583-003 | SNP array | Genotyping | 27 |
| nssv15657321 | copy number loss | 3-0380-001 | SNP array | Genotyping | 29 |
| nssv15657860 | copy number loss | 3-0396-000 | SNP array | Genotyping | 17 |
| nssv15658246 | copy number loss | 4-0001-005 | SNP array | Genotyping | 17 |
| nssv15672201 | copy number gain | 9-0016-003 | SNP array | Genotyping | 25 |
| nssv15672505 | copy number gain | 9-0007-001 | SNP array | Genotyping | 28 |
| nssv15674826 | copy number gain | 206775 | SNP array | Genotyping | 21 |
| nssv15680210 | copy number gain | 222686 | SNP array | Genotyping | 19 |
| nssv15680899 | copy number gain | 232713S | SNP array | Genotyping | 24 |
| nssv15681455 | copy number loss | OCD104-1594 | SNP array | Genotyping | 21 |
| nssv15684097 | copy number loss | OCD148-KJ-1488 | SNP array | Genotyping | 20 |
| nssv15691644 | copy number loss | OCD74-RM-249 | SNP array | Genotyping | 18 |
| nssv15691798 | copy number loss | OCD8-S_896143 | SNP array | Genotyping | 27 |
| nssv15693345 | copy number loss | OCD92-RW-1314 | SNP array | Genotyping | 10 |
| nssv15694566 | copy number gain | 201874 | SNP array | Genotyping | 19 |
| nssv15697300 | copy number loss | 156564 | SNP array | Genotyping | 16 |
| nssv15699265 | copy number loss | 224902 | SNP array | Genotyping | 16 |
| nssv15702644 | copy number loss | 198406 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611655 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15614005 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15614631 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15618535 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15619984 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15623345 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15624357 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15627456 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15633310 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15633877 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15634259 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15639685 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15643144 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15652172 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15652282 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15652496 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15653014 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15657321 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15657860 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15658246 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15672201 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15672505 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15674826 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15680210 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15680899 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15681455 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15684097 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15691644 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15691798 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15693345 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15694566 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15697300 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15699265 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15702644 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,545,713 |
| nssv15611655 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15614005 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15614631 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15618535 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15619984 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15623345 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15624357 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15627456 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15633310 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15633877 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15634259 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15639685 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15643144 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15652172 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15652282 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15652496 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15653014 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15657321 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15657860 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15658246 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15672201 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15672505 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15674826 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15680210 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15680899 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15681455 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15684097 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15691644 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15691798 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15693345 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15694566 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15697300 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15699265 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 | ||
| nssv15702644 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,162,176 |