A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3562551



Internal ID18514146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39419369..39551339hg38UCSC Ensembl
Innerchr17:37575622..37707592hg19UCSC Ensembl
Innerchr17:34829148..34961118hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38131971
hg19131971
hg18131971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063848
Supporting Variants
Samples
Known GenesCDK12, MED1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3562551
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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