A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522605



Internal ID15103212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30289087..30295642hg38UCSC Ensembl
Innerchr22:30685076..30691631hg19UCSC Ensembl
Innerchr22:29015076..29021631hg18UCSC Ensembl
Innerchr22:29009630..29016185hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg386556
hg196556
hg186556
hg176556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705997
Samples
Known GenesGATSL3, TBC1D10A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522605
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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