A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599825



Internal ID16040548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140556654..140626201hg38UCSC Ensembl
Innerchr5:139936239..140005786hg19UCSC Ensembl
Innerchr5:139916423..139985970hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3869548
hg1969548
hg1869548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153103
Samples1780854215_A
Known GenesAPBB3, MIR6831, SLC35A4, SRA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599825
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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