A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140480



Internal ID18931728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60986886..60990803hg38UCSC Ensembl
Outerchr11:60754358..60758275hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg383918
hg193918
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988017, nssv3979240
SamplesKWS2, KWS1
Known GenesCD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140480
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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