A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115426



Internal ID18904716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21281466..21287666hg38UCSC Ensembl
Outerchr12:21434400..21440600hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976480
SamplesKWS2
Known GenesSLCO1A2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115426
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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