A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598197



Internal ID16038920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56815268..56816476hg38UCSC Ensembl
Innerchr5:56111095..56112303hg19UCSC Ensembl
Innerchr5:56146852..56148060hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381209
hg191209
hg181209
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9791n54
Supporting Variantsnssv1030756, nssv1030754, nssv1030755
Samples
Known GenesMAP3K1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598197
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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