A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060776



Internal ID18803307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31473906..31504373hg38UCSC Ensembl
Innerchr22:31869892..31900359hg19UCSC Ensembl
Innerchr22:30199892..30230359hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3830468
hg1930468
hg1830468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3734197
Samples
Known GenesEIF4ENIF1, SFI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060776
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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