A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000032



Internal ID17292984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9096268..9101267hg38UCSC Ensembl
Outerchr21:9935101..9940100hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953322
Supporting Variants
SamplesBILGI_BIOE
Known GenesTEKT4P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000032
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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