A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142208



Internal ID18932901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88916234..88916312hg38UCSC Ensembl
Outerchr16:88982642..88982720hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963855, nssv3979660
SamplesKWS1, KWS2
Known GenesCBFA2T3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142208
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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