A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594119



Internal ID16381528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48246241..48272135hg38UCSC Ensembl
Innerchr4:48248258..48274152hg19UCSC Ensembl
Innerchr4:47943015..47968909hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3825895
hg1925895
hg1825895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152908
SamplesHGDP01297
Known GenesTEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594119
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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