nsv4377243
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,566
- 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: 527 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 519 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nsv4377243 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15630695 | copy number gain | 1-0602-004 | SNP array | Genotyping | 19 |
| nssv15631080 | copy number gain | 1-0602-001 | SNP array | Genotyping | 23 |
| nssv15647137 | copy number gain | 2-0704-002 | SNP array | Genotyping | 33 |
| nssv15649895 | copy number loss | 2-1360-001 | SNP array | Genotyping | 18 |
| nssv15658553 | copy number loss | 4-0047-001 | SNP array | Genotyping | 25 |
| nssv15671788 | copy number gain | 9-0016-002 | SNP array | Genotyping | 23 |
| nssv15683244 | copy number loss | OCD1007-S_0625-5706-3 | SNP array | Genotyping | 19 |
| nssv15688687 | copy number loss | OCD43-B_LF-1237 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15630695 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15631080 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15647137 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15649895 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15658553 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15671788 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15683244 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15688687 | Remapped | Perfect | NC_000002.12:g.(?_ 97524837)_(9755040 2_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,524,837 | 97,550,402 |
| nssv15630695 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15631080 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15647137 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15649895 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15658553 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15671788 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15683244 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 | ||
| nssv15688687 | Submitted genomic | NC_000002.11:g.(?_ 98141300)_(9816686 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,141,300 | 98,166,865 |