A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987219



Internal ID19207145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86180594..86182294hg38UCSC Ensembl
Outerchr16:86214200..86215900hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132443
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987219
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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