A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002583



Internal ID18846568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:26599922..26600241hg38UCSC Ensembl
Outerchr2:26822790..26823109hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149075
Supporting Variants
SamplesKWB1
Known GenesCIB4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002583
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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