A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522001



Internal ID15102608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42421796..42827928hg38UCSC Ensembl
Innerchr21:43841905..44248038hg19UCSC Ensembl
Innerchr21:42714974..43121107hg18UCSC Ensembl
Innerchr21:42714974..43121107hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38406133
hg19406134
hg18406134
hg17406134
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694770
Samples
Known GenesPDE9A, RSPH1, SLC37A1, UBASH3A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522001
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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