A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598180



Internal ID16038903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55301039..55344668hg38UCSC Ensembl
Innerchr5:54596867..54640496hg19UCSC Ensembl
Innerchr5:54632624..54676253hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3843630
hg1943630
hg1843630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030366
Samples
Known GenesDHX29, SKIV2L2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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