A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076462



Internal ID19318893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7842113..7843814hg38UCSC Ensembl
chr19:7906999..7908700hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772887
SamplesKWP1
Known GenesEVI5L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076462
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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