A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055541



Internal ID19144760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32610981..32705152hg38UCSC Ensembl
Innerchr22:33006967..33101138hg19UCSC Ensembl
Innerchr22:31336967..31431138hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3894172
hg1994172
hg1894172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4561n100
Supporting Variantsnssv3600819
Samples
Known GenesSYN3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055541
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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