A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988031



Internal ID18876759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126921644..126921819hg38UCSC Ensembl
Outerchr11:126791540..126791715hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133176
Supporting Variants
SamplesKWS1
Known GenesKIRREL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988031
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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