A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065248



Internal ID19154467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25356242..25370579hg38UCSC Ensembl
Innerchr22:25752209..25766546hg19UCSC Ensembl
Innerchr22:24082209..24096546hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3814338
hg1914338
hg1814338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600731
Samples
Known GenesLRP5L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065248
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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