A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030778



Internal ID15537278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815495..56818023hg38UCSC Ensembl
Innerchr5:56111322..56113850hg19UCSC Ensembl
Innerchr5:56147079..56149607hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382529
hg192529
hg182529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598208
Supporting Variants
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1030778
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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