A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054901



Internal ID18797432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2126462..2149228hg38UCSC Ensembl
Innerchr12:2235628..2258394hg19UCSC Ensembl
Innerchr12:2105889..2128655hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3822767
hg1922767
hg1822767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1339n100
Supporting Variantsnssv3710823, nssv3710822, nssv3506221, nssv3510575, nssv3507541
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054901
Frequency
Sample Size29084
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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