A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3657347



Internal ID18608942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34520432..34549226hg38UCSC Ensembl
Innerchr6:34488209..34517003hg19UCSC Ensembl
Innerchr6:34596187..34624981hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3828795
hg1928795
hg1828795
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022555
Supporting Variants
Samples
Known GenesPACSIN1, SPDEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3657347
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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