A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976899



Internal ID18884684
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 StatusS
Merged Variantsnsv1124845
Supporting Variants
SamplesKWS2
Known GenesABCG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976899
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer