A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998259



Internal ID18842467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24197153..24197222hg38UCSC Ensembl
Outerchr16:24208474..24208543hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146896
Supporting Variants
SamplesKWB1
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998259
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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