A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124672



Internal ID19286113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:31339063..31346763hg38UCSC Ensembl
Outerchr13:31913200..31920900hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976726
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124672
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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