A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950063



Internal ID17298937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56945174..56950873hg38UCSC Ensembl
Outerchr5:56241001..56246700hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385700
hg195700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997752
SamplesBILGI_BIOE
Known GenesMIER3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950063
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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