A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125668



Internal ID18901579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:13413895..13413990hg38UCSC Ensembl
Outerchr19:13524709..13524804hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983873
SamplesKWS2
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125668
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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