A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996637



Internal ID18846279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165486089..165489890hg38UCSC Ensembl
Outerchr2:166342599..166346400hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147849
Supporting Variants
SamplesKWB1
Known GenesCSRNP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996637
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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