A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988242



Internal ID18876063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2746037..2746104hg38UCSC Ensembl
Outerchr3:2787721..2787788hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117324
Supporting Variants
SamplesKWS1
Known GenesCNTN4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988242
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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