A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128679



Internal ID18935846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46457965..46463665hg38UCSC Ensembl
Outerchr13:47032100..47037800hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960592
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128679
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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