A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048791



Internal ID18791322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2150789hg38UCSC Ensembl
Innerchr12:2245850..2259955hg19UCSC Ensembl
Innerchr12:2116111..2130216hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3814106
hg1914106
hg1814106
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1341n100
Supporting Variantsnssv3517695, nssv3708052, nssv3520352, nssv3511595, nssv3522472, nssv3516982, nssv3508114, nssv3513601, nssv3515536, nssv3708054, nssv3507852, nssv3514065, nssv3507967, nssv3708053, nssv3708051, nssv3516584, nssv3513138, nssv3503383, nssv3510121, nssv3517433, nssv3508393, nssv3507846, nssv3503515, nssv3520059, nssv3517035, nssv3510798, nssv3521256, nssv3507591, nssv3515180, nssv3511843
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)nsv1048791
Frequency
Sample Size29084
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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