A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999031



Internal ID19188855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:167837389..167840990hg38UCSC Ensembl
Outerchr2:168693899..168697500hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151849
Supporting Variants
SamplesKWB1
Known GenesB3GALT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999031
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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