nsv4370314
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,712
- 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: 381 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 381 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4370314 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nsv4370314 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15619923 | copy number gain | 1-0941-004 | SNP array | Genotyping | 18 |
| nssv15627702 | copy number gain | 1-0534-001 | SNP array | Genotyping | 23 |
| nssv15628131 | copy number gain | 1-0534-005 | SNP array | Genotyping | 21 |
| nssv15635249 | copy number gain | 13-0138-004 | SNP array | Genotyping | 23 |
| nssv15645527 | copy number gain | 2-0299-003 | SNP array | Genotyping | 23 |
| nssv15647372 | copy number gain | 2-1239-001 | SNP array | Genotyping | 15 |
| nssv15651438 | copy number gain | 2-1433-004 | SNP array | Genotyping | 13 |
| nssv15673680 | copy number gain | 169151 | SNP array | Genotyping | 17 |
| nssv15678520 | copy number gain | 206762 | SNP array | Genotyping | 15 |
| nssv15682382 | copy number gain | OCD110-S_1652 | SNP array | Genotyping | 26 |
| nssv15682408 | copy number gain | OCD110-S_1653 | SNP array | Genotyping | 26 |
| nssv15685900 | copy number gain | OCD22-S_896412 | SNP array | Genotyping | 23 |
| nssv15689598 | copy number gain | OCD1114-896263 | SNP array | Genotyping | 17 |
| nssv15692906 | copy number gain | OCD77-896702 | SNP array | Genotyping | 23 |
| nssv15692930 | copy number gain | OCD77-896703 | SNP array | Genotyping | 27 |
| nssv15694570 | copy number gain | 201874 | SNP array | Genotyping | 19 |
| nssv15702154 | copy number gain | 154658 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15619923 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15627702 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15628131 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15635249 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15645527 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15647372 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15651438 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15673680 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15678520 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15682382 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15682408 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15685900 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15689598 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15692906 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15692930 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15694570 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15702154 | Remapped | Perfect | NC_000004.12:g.(?_ 57187577)_(5723428 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 57,187,577 | 57,234,288 |
| nssv15619923 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15627702 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15628131 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15635249 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15645527 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15647372 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15651438 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15673680 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15678520 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15682382 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15682408 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15685900 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15689598 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15692906 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15692930 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15694570 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 | ||
| nssv15702154 | Submitted genomic | NC_000004.11:g.(?_ 58053743)_(5810045 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 58,053,743 | 58,100,454 |