A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3750116



Internal ID18701711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:82581263..82913094hg38UCSC Ensembl
Innerchr6:83290980..83622813hg19UCSC Ensembl
Innerchr6:83347699..83679532hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38331832
hg19331834
hg18331834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1022371
Supporting Variants
Samples
Known GenesUBE3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3750116
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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