A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593373



Internal ID18544968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53818668..53892608hg38UCSC Ensembl
Innerchr3:53852695..53926635hg19UCSC Ensembl
Innerchr3:53827735..53901675hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3873941
hg1973941
hg1873941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv997771
Supporting Variants
Samples
Known GenesACTR8, CHDH, IL17RB, SELK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593373
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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