A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062994



Internal ID19152213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39619105..39705215hg38UCSC Ensembl
Innerchr22:40015110..40101220hg19UCSC Ensembl
Innerchr22:38345056..38431166hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3886111
hg1986111
hg1886111
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4572n100
Supporting Variantsnssv3590791
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)nsv1062994
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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