A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113467



Internal ID18930493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20833840..20833891hg38UCSC Ensembl
Outerchr12:20986774..20986825hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968761
SamplesKWS2
Known GenesSLCO1B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113467
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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