A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672738



Internal ID15062704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25303640..25512474hg38UCSC Ensembl
Innerchr22:25699607..25908441hg19UCSC Ensembl
Innerchr22:24029607..24238441hg18UCSC Ensembl
Innerchr22:24024161..24232995hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38208835
hg19208835
hg18208835
hg17208835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517205
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv672738
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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