A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979821



Internal ID19232877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:85628557..85628609hg38UCSC Ensembl
Outerchr3:85677707..85677759hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142360
Supporting Variants
SamplesKWS2
Known GenesCADM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979821
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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