A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598190



Internal ID16038913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815165..56815980hg38UCSC Ensembl
Innerchr5:56110992..56111807hg19UCSC Ensembl
Innerchr5:56146749..56147564hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38816
hg19816
hg18816
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030737, nssv1030735, nssv1030736, nssv1030734, nssv1030733
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598190
Frequency
Sample Size17421
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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