A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600261



Internal ID16387670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170544029..170570634hg38UCSC Ensembl
Innerchr5:169971033..169997638hg19UCSC Ensembl
Innerchr5:169903611..169930216hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3826606
hg1926606
hg1826606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153118
Samples1798860251_A
Known GenesKCNIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600261
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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