A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067007



Internal ID18809538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32004579..32056789hg38UCSC Ensembl
Innerchr22:32400566..32452776hg19UCSC Ensembl
Innerchr22:30730566..30782776hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3852211
hg1952211
hg1852211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4560n100
Supporting Variantsnssv3600814
Samples
Known GenesSLC5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067007
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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