A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022555



Internal ID18765089
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 StatusM
Merged Variantsdgv5953n100
Supporting Variantsnssv3657347
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)nsv1022555
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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