A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995940



Internal ID19190832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50971068..50974669hg38UCSC Ensembl
Outerchr3:51008499..51012100hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146785
Supporting Variants
SamplesKWB1
Known GenesDOCK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995940
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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