A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002275



Internal ID19192790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9246088..9261267hg38UCSC Ensembl
Outerchr21:10084899..10100100hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3815180
hg1915202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153625
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002275
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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