A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984152



Internal ID19238214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66376261..66376383hg38UCSC Ensembl
Outerchr8:67288496..67288618hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125948
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984152
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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