A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124845



Internal ID18925551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42290490..42293890hg38UCSC Ensembl
Outerchr21:43710600..43714000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976899
SamplesKWS2
Known GenesABCG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124845
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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