A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118617



Internal ID18927003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33627594..33632994hg38UCSC Ensembl
Outerchr19:34118500..34123900hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959131
SamplesKWS1
Known GenesCHST8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118617
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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