A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5975n100



Internal ID19016343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57788604..58448438hg38UCSC Ensembl
chr6:58082084..58774716hg19UCSC Ensembl
chr6:58190043..58882675hg18UCSC Ensembl
Cytoband6p11.1
Allele length
AssemblyAllele length
hg38659835
hg19692633
hg18692633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1024377, nsv1017058, nsv1020262
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)dgv5975n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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