A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993311



Internal ID19246075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:25632909..25632961hg38UCSC Ensembl
Outerchr3:25674400..25674452hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141805
Supporting Variants
SamplesKWS2
Known GenesTOP2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993311
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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