A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078448



Internal ID19325321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55430332..55431633hg38UCSC Ensembl
chr19:55941699..55943000hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762052
SamplesKWP1
Known GenesSHISA7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078448
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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