A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977590



Internal ID19247174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12428991..12433091hg38UCSC Ensembl
Outerchr8:12286500..12290600hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115782
Supporting Variants
SamplesKWS2
Known GenesFAM86B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977590
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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