A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980069



Internal ID18888027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27660657..27660736hg38UCSC Ensembl
Outerchr8:27518174..27518253hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117487
Supporting Variants
SamplesKWS2
Known GenesSCARA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980069
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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