A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030762



Internal ID15537262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815342..56816476hg38UCSC Ensembl
Innerchr5:56111169..56112303hg19UCSC Ensembl
Innerchr5:56146926..56148060hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381135
hg191135
hg181135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598201
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)nssv1030762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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