A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1002380



Internal ID15949650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77827823..78060765hg38UCSC Ensembl
Innerchr4:78748977..78981919hg19UCSC Ensembl
Innerchr4:78968001..79200943hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38232943
hg19232943
hg18232943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv594704
Supporting Variants
Samples
Known GenesFRAS1, MRPL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1002380
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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