A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119449



Internal ID18920553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23875585..23875672hg38UCSC Ensembl
Outerchr16:23886906..23886993hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959892
SamplesKWS1
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119449
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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