A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516004



Internal ID15096611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44568543..44569327hg38UCSC Ensembl
Innerchr21:45988426..45989211hg19UCSC Ensembl
Innerchr21:44812854..44813639hg18UCSC Ensembl
Innerchr21:44812854..44813639hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38785
hg19786
hg18786
hg17786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655309, nssv657419, nssv665669
Samples
Known GenesTSPEAR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516004
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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