A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961940



Internal ID18857922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13376819..13376899hg38UCSC Ensembl
Outerchr19:13487633..13487713hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120355
Supporting Variants
SamplesKWS1
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961940
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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