A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030747



Internal ID15537247
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 StatusS
Merged Variantsnsv598193
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)nssv1030747
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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