A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128750



Internal ID18933507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:70121697..70200497hg38UCSC Ensembl
Outerchr16:70155600..70234400hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3878801
hg1978801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1365n106
Supporting Variantsnssv3960663
SamplesKWS1
Known GenesCLEC18C, PDPR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128750
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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