A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983872



Internal ID18881226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4553399..4553488hg38UCSC Ensembl
Outerchr19:4553411..4553500hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125667
Supporting Variants
SamplesKWS2
Known GenesSEMA6B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983872
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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