A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545110



Internal ID18496705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41767306..41821751hg38UCSC Ensembl
Innerchr17:39923558..39978003hg19UCSC Ensembl
Innerchr17:37177084..37231529hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3854446
hg1954446
hg1854446
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060502
Supporting Variants
Samples
Known GenesFKBP10, JUP, LEPREL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545110
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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