A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977418



Internal ID19239174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9246088..9261467hg38UCSC Ensembl
Outerchr21:10084900..10100300hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3815380
hg1915401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115608
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977418
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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