A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5955n100



Internal ID20157571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34755946..34919539hg38UCSC Ensembl
chr6:34723723..34887316hg19UCSC Ensembl
chr6:34831701..34995294hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38163594
hg19163594
hg18163594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1021733, nsv1025374, nsv1015792
Samples
Known GenesANKS1A, SNRPC, TAF11, UHRF1BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5955n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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