A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586347



Internal ID16373756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57709290..57710484hg38UCSC Ensembl
Innerchr20:56284346..56285540hg19UCSC Ensembl
Innerchr20:55717752..55718946hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381195
hg191195
hg181195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7624n54
Supporting Variantsnssv941791
Samples
Known GenesPMEPA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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