A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055612



Internal ID18798143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:39253612..39406983hg38UCSC Ensembl
Innerchr17:37409865..37563236hg19UCSC Ensembl
Innerchr17:34663391..34816762hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38153372
hg19153372
hg18153372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3562550
Samples
Known GenesFBXL20, MED1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055612
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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