A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996094



Internal ID19194631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30474393..30477994hg38UCSC Ensembl
Outerchr14:30943599..30947200hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150620
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996094
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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