A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132354



Internal ID19256332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126448205..126452705hg38UCSC Ensembl
Outerchr11:126318100..126322600hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987127
SamplesKWS1
Known GenesKIRREL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132354
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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