A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118883



Internal ID19250259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134718730..134719130hg38UCSC Ensembl
Outerchr2:135476300..135476700hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981204
SamplesKWS1
Known GenesTMEM163
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118883
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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