A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061546



Internal ID18804077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31963004..32068363hg38UCSC Ensembl
Innerchr22:32358991..32464350hg19UCSC Ensembl
Innerchr22:30688991..30794350hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38105360
hg19105360
hg18105360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4559n100
Supporting Variantsnssv3734199
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)nsv1061546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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