A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597809



Internal ID16038532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34853860..34957339hg38UCSC Ensembl
Innerchr5:34853965..34957444hg19UCSC Ensembl
Innerchr5:34889722..34993201hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38103480
hg19103480
hg18103480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028946
Samples
Known GenesBRIX1, DNAJC21, RAD1, TTC23L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597809
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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