A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129583



Internal ID19261870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:69820782..69825118hg38UCSC Ensembl
Outerchr16:69854685..69859021hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384337
hg194337
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3963850
SamplesKWS1
Known GenesWWP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129583
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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