A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591430



Internal ID16378839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:123906787..123954366hg38UCSC Ensembl
Innerchr3:123625634..123673213hg19UCSC Ensembl
Innerchr3:125108324..125155903hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3847580
hg1947580
hg1847580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971808
Samples
Known GenesCCDC14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591430
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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