A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000029



Internal ID16946295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8756968..8886367hg38UCSC Ensembl
Outerchr21:9645801..9775200hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38129400
hg19129400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953319
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000029
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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