A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139684



Internal ID19282468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:34552636..34556136hg38UCSC Ensembl
Outerchr18:32132600..32136100hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977270
SamplesKWS2
Known GenesDTNA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139684
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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