A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597240



Internal ID16384649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14426502..14509794hg38UCSC Ensembl
Innerchr5:14426611..14509903hg19UCSC Ensembl
Innerchr5:14479611..14562903hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3883293
hg1983293
hg1883293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026019
Samples
Known GenesTRIO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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