A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999417



Internal ID18812267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197327674..197580562hg38UCSC Ensembl
Innerchr3:197054545..197307433hg19UCSC Ensembl
Innerchr3:198538942..198791830hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38252889
hg19252889
hg18252889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5041n100
Supporting Variantsnssv3617009
Samples
Known GenesBDH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999417
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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