A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599647



Internal ID16040370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121876230..121966379hg38UCSC Ensembl
Innerchr5:121211925..121302074hg19UCSC Ensembl
Innerchr5:121239824..121329973hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3890150
hg1990150
hg1890150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032080
Samples
Known GenesSRFBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599647
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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