A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071681



Internal ID19316316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16225554..16229155hg38UCSC Ensembl
chr20:16206199..16209800hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771642
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071681
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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