A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030196



Internal ID19119415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:82916908..82967362hg38UCSC Ensembl
Innerchr6:83626627..83677081hg19UCSC Ensembl
Innerchr6:83683346..83733800hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3850455
hg1950455
hg1850455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648887
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)nsv1030196
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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