A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120301



Internal ID18938136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94363766..94380253hg38UCSC Ensembl
Outerchr14:94830103..94846590hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3816488
hg1916488
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961863
SamplesKWS1
Known GenesSERPINA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120301
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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