A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597005



Internal ID16037728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7860291..8092964hg38UCSC Ensembl
Innerchr5:7860404..8093077hg19UCSC Ensembl
Innerchr5:7913404..8146077hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38232674
hg19232674
hg18232674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023848
Samples
Known GenesFASTKD3, MTRR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597005
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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