A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594055



Internal ID16381464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40829635..40855177hg38UCSC Ensembl
Innerchr4:40831652..40857194hg19UCSC Ensembl
Innerchr4:40526409..40551951hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3825543
hg1925543
hg1825543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152675
Samples1780854419_A
Known GenesAPBB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594055
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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