A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994214



Internal ID19214448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:57807220..57809220hg38UCSC Ensembl
Outerchr11:57574692..57576692hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136036
Supporting Variants
SamplesKWS1
Known GenesCTNND1, TMX2-CTNND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994214
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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