A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134207



Internal ID18912387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20868615..20868673hg38UCSC Ensembl
Outerchr12:21021549..21021607hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971690
SamplesKWS2
Known GenesSLCO1B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134207
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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