A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv655008



Internal ID15044974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:41252498..41585953hg38UCSC Ensembl
Innerchr22:41648502..41981957hg19UCSC Ensembl
Innerchr22:39978448..40311903hg18UCSC Ensembl
Innerchr22:39973002..40306457hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38333456
hg19333456
hg18333456
hg17333456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516925
Supporting Variants
Samples
Known GenesACO2, CSDC2, MIR6889, PHF5A, PMM1, POLR3H, RANGAP1, TEF, TOB2, ZC3H7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv655008
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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