A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043683



Internal ID18786214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137996262..138061095hg38UCSC Ensembl
Innerchr9:140890714..140955547hg19UCSC Ensembl
Innerchr9:140010535..140075368hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3864834
hg1964834
hg1864834
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3696519
Samples
Known GenesCACNA1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043683
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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