A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002028



Internal ID19192350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:56642281..56645482hg38UCSC Ensembl
Outerchr14:57108999..57112200hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151097
Supporting Variants
SamplesKWB1
Known GenesTMEM260
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002028
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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