nsv6627377
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:62,597
- 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: 1087 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1448 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627377 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 280,787 |
| nsv6627377 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,324,016 | 24,386,612 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18308242 | duplication | OSC6813 | SNP array | Probe signal intensity | 8 |
| nssv18311619 | duplication | OSC7395 | SNP array | Probe signal intensity | 10 |
| nssv18315836 | duplication | OSC8063 | SNP array | Probe signal intensity | 8 |
| nssv18316051 | duplication | OSC8213 | SNP array | Probe signal intensity | 13 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18308242 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(280787_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 280,787 |
| nssv18311619 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(280787_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 280,787 |
| nssv18315836 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(280787_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 280,787 |
| nssv18316051 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(280787_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 280,787 |
| nssv18308242 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2438661 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,386,612 | ||
| nssv18311619 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2438661 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,386,612 | ||
| nssv18315836 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2438661 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,386,612 | ||
| nssv18316051 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2438661 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,386,612 |