A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071515



Internal ID19324478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17978090..17984191hg38UCSC Ensembl
chr19:18088899..18095000hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764571
SamplesKWP1
Known GenesKCNN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071515
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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