A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056681



Internal ID19145900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39619105..39720561hg38UCSC Ensembl
Innerchr22:40015110..40116566hg19UCSC Ensembl
Innerchr22:38345056..38446512hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38101457
hg19101457
hg18101457
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4572n100
Supporting Variantsnssv3590793, nssv3590792
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)nsv1056681
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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