A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597756



Internal ID16385165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29421514..29461866hg38UCSC Ensembl
Innerchr5:29421621..29461973hg19UCSC Ensembl
Innerchr5:29457378..29497730hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3840353
hg1940353
hg1840353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028849, nssv1028850
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597756
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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