A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047874



Internal ID18790405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2577599..2807322hg38UCSC Ensembl
Innerchr12:2686765..2916488hg19UCSC Ensembl
Innerchr12:2557026..2786749hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38229724
hg19229724
hg18229724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3514408
Samples
Known GenesCACNA1C, CACNA1C-AS1, FKBP4, LOC283440
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047874
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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