A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045522



Internal ID18788053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2673632..2727192hg38UCSC Ensembl
Innerchr12:2782798..2836358hg19UCSC Ensembl
Innerchr12:2653059..2706619hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3853561
hg1953561
hg1853561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1344n100
Supporting Variantsnssv3515298
Samples
Known GenesCACNA1C, CACNA1C-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045522
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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