A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987158



Internal ID19205183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:30474394..30478994hg38UCSC Ensembl
Outerchr14:30943600..30948200hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132383
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987158
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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