A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978105



Internal ID19243323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9289467..9377067hg38UCSC Ensembl
Outerchr21:10128300..10215900hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3887601
hg1987601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139768
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978105
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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