A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4018557



Internal ID22080188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44170552..44172132hg38UCSC Ensembl
Outerchr6:44165912..44173948hg38UCSC Ensembl
Innerchr6:44138289..44139869hg19UCSC Ensembl
Outerchr6:44133649..44141685hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg388037
hg198037
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156500
Supporting Variants
Samples
Known GenesCAPN11
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4018557
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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