A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149367



Internal ID18852657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54466371..54466604hg38UCSC Ensembl
Outerchr2:54693508..54693741hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002876
SamplesKWB1
Known GenesSPTBN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149367
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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