A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3174n100



Internal ID20154790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41778258..41843183hg38UCSC Ensembl
chr17:39934510..39999435hg19UCSC Ensembl
chr17:37188036..37252961hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3864926
hg1964926
hg1864926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061706, nsv1058031
Samples
Known GenesFKBP10, JUP, KLHL10, LEPREL4, NT5C3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3174n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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