A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976821



Internal ID19235814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35759636..35768536hg38UCSC Ensembl
Outerchr18:33339600..33348500hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg388901
hg198901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124768
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976821
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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