A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518222



Internal ID15098829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171783899..171794409hg38UCSC Ensembl
Innerchr1:171753039..171763549hg19UCSC Ensembl
Innerchr1:170019662..170030172hg18UCSC Ensembl
Innerchr1:168484696..168495206hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3810511
hg1910511
hg1810511
hg1710511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695646
Samples
Known GenesMETTL13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518222
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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