A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120465



Internal ID19249545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179962014..179962075hg38UCSC Ensembl
Outerchr3:179679802..179679863hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2645n106
Supporting Variantsnssv3962058
SamplesKWS1
Known GenesPEX5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120465
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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