nsv6622706
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:37,404
- 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: 206 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 42 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6622706 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 26,635,654 | 26,673,057 |
nsv6622706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 27,104,860 | 27,142,263 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18288729 | deletion | OSC3151 | SNP array | Probe signal intensity | nssv18287845, nssv18287846, nssv18288728 |
nssv18292884 | deletion | OSC4100 | SNP array | Probe signal intensity | 8 |
nssv18301155 | duplication | OSC5481 | SNP array | Probe signal intensity | nssv18300273, nssv18300864, nssv18301156 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18288729 | Remapped | Perfect | NC_000014.9:g.(?_2 6635654)_(26673057 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 26,635,654 | 26,673,057 |
nssv18292884 | Remapped | Perfect | NC_000014.9:g.(?_2 6635654)_(26673057 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 26,635,654 | 26,673,057 |
nssv18301155 | Remapped | Perfect | NC_000014.9:g.(?_2 6635654)_(26673057 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 26,635,654 | 26,673,057 |
nssv18288729 | Submitted genomic | NC_000014.8:g.(?_2 7104860)_(27142263 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 27,104,860 | 27,142,263 | ||
nssv18292884 | Submitted genomic | NC_000014.8:g.(?_2 7104860)_(27142263 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 27,104,860 | 27,142,263 | ||
nssv18301155 | Submitted genomic | NC_000014.8:g.(?_2 7104860)_(27142263 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 27,104,860 | 27,142,263 |