A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598194



Internal ID16038917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815268..56816077hg38UCSC Ensembl
Innerchr5:56111095..56111904hg19UCSC Ensembl
Innerchr5:56146852..56147661hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38810
hg19810
hg18810
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9788n54
Supporting Variantsnssv1030750, nssv1030751
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598194
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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