A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992695



Internal ID19226412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10173653..10179753hg38UCSC Ensembl
Outerchr11:10195200..10201300hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg386101
hg196101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141189
Supporting Variants
SamplesKWS2
Known GenesSBF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992695
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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