A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148189



Internal ID18849167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20856290..20856377hg38UCSC Ensembl
Outerchr12:21009224..21009311hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001699
SamplesKWB1
Known GenesSLCO1B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148189
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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