A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148684



Internal ID19200550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94037333..94042534hg38UCSC Ensembl
Outerchr11:93770499..93775700hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg385202
hg195202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997473
SamplesKWB1
Known GenesHEPHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148684
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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