A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522483



Internal ID15449776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:55113681..55116065hg38UCSC Ensembl
Innerchr12:55507465..55509849hg19UCSC Ensembl
Innerchr12:53793732..53796116hg18UCSC Ensembl
Innerchr12:53793732..53796116hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg382385
hg192385
hg182385
hg172385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705850
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522483
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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