A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3963975



Internal ID18878312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42292629..42293059hg38UCSC Ensembl
Outerchr21:43712739..43713169hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129681
Supporting Variants
SamplesKWS1
Known GenesABCG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3963975
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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