A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5976n100



Internal ID19016344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57887138..58051308hg38UCSC Ensembl
chr6:58213416..58377586hg19UCSC Ensembl
chr6:58321375..58485545hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38164171
hg19164171
hg18164171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024304, nsv1029598, nsv1019643, nsv1030059
Samples
Known GenesGUSBP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5976n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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