A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597996



Internal ID16385405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45668936..46287010hg38UCSC Ensembl
Innerchr5:45669038..46287112hg19UCSC Ensembl
Innerchr5:45704795..46322869hg18UCSC Ensembl
Cytoband5p11
Allele length
AssemblyAllele length
hg38618075
hg19618075
hg18618075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029686, nssv1029687
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597996
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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