A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682237



Internal ID15072203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41255030..41565827hg38UCSC Ensembl
Innerchr22:41651034..41961831hg19UCSC Ensembl
Innerchr22:39980980..40291777hg18UCSC Ensembl
Innerchr22:39975534..40286331hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38310798
hg19310798
hg18310798
hg17310798
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516925
Supporting Variants
Samples
Known GenesACO2, CSDC2, PHF5A, POLR3H, RANGAP1, TEF, TOB2, ZC3H7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682237
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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