A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125539



Internal ID19276938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:129143072..129145383hg38UCSC Ensembl
Outerchr11:129012967..129015278hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382312
hg192312
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979248, nssv3961044
SamplesKWS2, KWS1
Known GenesARHGAP32
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125539
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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