A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591410



Internal ID16378819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122967752..123004344hg38UCSC Ensembl
Innerchr3:122686599..122723191hg19UCSC Ensembl
Innerchr3:124169289..124205881hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3836593
hg1936593
hg1836593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152539
SamplesNINDS_51
Known GenesSEMA5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591410
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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