A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598193



Internal ID16038916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815165..56816476hg38UCSC Ensembl
Innerchr5:56110992..56112303hg19UCSC Ensembl
Innerchr5:56146749..56148060hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381312
hg191312
hg181312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9790n54
Supporting Variantsnssv1030746, nssv1030749, nssv1030745, nssv1030748, nssv1030747
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598193
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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