nsv6629888
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:18,115
- Publication(s):Zarrei et al. 2023
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: 327 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 327 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629888 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nsv6629888 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283646 | duplication | OSC0246 | SNP array | Probe signal intensity | 6 |
| nssv18284357 | duplication | OSC2658 | SNP array | Probe signal intensity | 5 |
| nssv18284617 | duplication | OSC2674 | SNP array | Probe signal intensity | 8 |
| nssv18289309 | duplication | OSC3542 | SNP array | Probe signal intensity | 11 |
| nssv18290183 | duplication | OSC3535 | SNP array | Probe signal intensity | 13 |
| nssv18290900 | duplication | OSC0373 | SNP array | Probe signal intensity | 9 |
| nssv18292133 | duplication | OSC3820 | SNP array | Probe signal intensity | 8 |
| nssv18294787 | duplication | OSC4412 | SNP array | Probe signal intensity | nssv18294224, nssv18294225, nssv18295120 |
| nssv18299875 | duplication | OSC0534 | SNP array | Probe signal intensity | 7 |
| nssv18314058 | duplication | OSC0815 | SNP array | Probe signal intensity | nssv18314280, nssv18314051, nssv18313606 |
| nssv18314147 | duplication | OSC0821 | SNP array | Probe signal intensity | 6 |
| nssv18320039 | duplication | OSC1047 | SNP array | Probe signal intensity | 5 |
| nssv18323143 | duplication | OSC1489 | SNP array | Probe signal intensity | 6 |
| nssv18324695 | duplication | OSC1732 | SNP array | Probe signal intensity | nssv18325052, nssv18324410 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283646 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18284357 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18284617 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18289309 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18290183 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18290900 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18292133 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18294787 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18299875 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18314058 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18314147 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18320039 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18323143 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18324695 | Remapped | Perfect | NC_000004.12:g.(?_ 65731821)_(6574993 5_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 65,731,821 | 65,749,935 |
| nssv18283646 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18284357 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18284617 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18289309 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18290183 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18290900 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18292133 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18294787 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18299875 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18314058 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18314147 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18320039 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18323143 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 | ||
| nssv18324695 | Submitted genomic | NC_000004.11:g.(?_ 66597539)_(6661565 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,597,539 | 66,615,653 |