A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597257



Internal ID16384666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14871450..14872550hg38UCSC Ensembl
Innerchr5:14871559..14872659hg19UCSC Ensembl
Innerchr5:14924559..14925659hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381101
hg191101
hg181101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026059
Samples
Known GenesANKH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597257
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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