A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977826



Internal ID19232842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142467139..142471139hg38UCSC Ensembl
Outerchr8:143548500..143552500hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125021
Supporting Variants
SamplesKWS2
Known GenesBAI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977826
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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