nsv6627378
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:66,417
- 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: 1093 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 1454 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627378 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nsv6627378 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18308962 | duplication | OSC7059 | SNP array | Probe signal intensity | 10 |
| nssv18310177 | duplication | OSC7239 | SNP array | Probe signal intensity | 10 |
| nssv18312069 | duplication | OSC7527 | SNP array | Probe signal intensity | 9 |
| nssv18314409 | duplication | OSC7880 | SNP array | Probe signal intensity | 12 |
| nssv18314802 | duplication | OSC7995 | SNP array | Probe signal intensity | 12 |
| nssv18315202 | duplication | OSC7958 | SNP array | Probe signal intensity | 9 |
| nssv18315365 | duplication | OSC8067 | SNP array | Probe signal intensity | 7 |
| nssv18315449 | duplication | OSC8125 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18308962 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18310177 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18312069 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18314409 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18314802 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18315202 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18315365 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18315449 | Remapped | Perfect | NT_187633.1:g.(?_2 18191)_(284607_?)d up | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,191 | 284,607 |
| nssv18308962 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18310177 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18312069 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18314409 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18314802 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18315202 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18315365 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 | ||
| nssv18315449 | Submitted genomic | NC_000022.10:g.(?_ 24324016)_(2439043 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,016 | 24,390,432 |