A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5994n100



Internal ID22792081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:62196908..62607477hg38UCSC Ensembl
chr6:62906813..63317382hg19UCSC Ensembl
chr6:62964772..63375341hg18UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38410570
hg19410570
hg18410570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017249, nsv1020677
Samples
Known GenesKHDRBS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5994n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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