A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055817



Internal ID18798348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38729069..38767021hg38UCSC Ensembl
Innerchr22:39125074..39163026hg19UCSC Ensembl
Innerchr22:37455020..37492972hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3837953
hg1937953
hg1837953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3734209
Samples
Known GenesGTPBP1, SUN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055817
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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