A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055756



Internal ID18798287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18062621..18794021hg38UCSC Ensembl
Innerchr22:18545387..18781534hg19UCSC Ensembl
Innerchr22:16925387..17161534hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38731401
hg19236148
hg18236148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589344
Samples
Known GenesGGT3P, PEX26, TUBA8, USP18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055756
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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