A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005355



Internal ID18747886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197360696..197543615hg38UCSC Ensembl
Innerchr3:197087567..197270486hg19UCSC Ensembl
Innerchr3:198571964..198754883hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38182920
hg19182920
hg18182920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5040n100
Supporting Variantsnssv3617012
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)nsv1005355
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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