A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060892



Internal ID19150111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39619105..39674927hg38UCSC Ensembl
Innerchr22:40015110..40070932hg19UCSC Ensembl
Innerchr22:38345056..38400878hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3855823
hg1955823
hg1855823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4573n100
Supporting Variantsnssv3590789
Samples
Known GenesCACNA1I
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060892
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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