A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145764



Internal ID19201668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8571966..8594667hg38UCSC Ensembl
Outerchr21:9460799..9483500hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3822702
hg1922702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997127
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145764
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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