A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124675



Internal ID19281857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:66021968..66026168hg38UCSC Ensembl
Outerchr13:66596100..66600300hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976729
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124675
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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