A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065893



Internal ID18808424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32004579..32057060hg38UCSC Ensembl
Innerchr22:32400566..32453047hg19UCSC Ensembl
Innerchr22:30730566..30783047hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3852482
hg1952482
hg1852482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4560n100
Supporting Variantsnssv3600815
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)nsv1065893
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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