A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977577



Internal ID19231342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60700..70300hg38UCSC Ensembl
Outerchr8:10700..20300hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg389601
hg199601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115770
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977577
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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