A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139662



Internal ID19249924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:82028195..82029395hg38UCSC Ensembl
Outerchr16:82061800..82063000hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977248
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139662
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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