A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519245



Internal ID15446538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44413029..44429252hg38UCSC Ensembl
Innerchr21:45832912..45849135hg19UCSC Ensembl
Innerchr21:44657340..44673563hg18UCSC Ensembl
Innerchr21:44657340..44673563hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816224
hg1916224
hg1816224
hg1716224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694319
Samples
Known GenesTRPM2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519245
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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