A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047329



Internal ID18789860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148845hg38UCSC Ensembl
Innerchr12:2245850..2258011hg19UCSC Ensembl
Innerchr12:2116111..2128272hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812162
hg1912162
hg1812162
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3517652, nssv3522703, nssv3505339, nssv3514559, nssv3512123, nssv3711669, nssv3711667, nssv3711666, nssv3505370, nssv3512247, nssv3520969, nssv3515886, nssv3515742, nssv3519533, nssv3514638, nssv3519250, nssv3711668, nssv3711665, nssv3516504, nssv3711670, nssv3518398, nssv3511348
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)nsv1047329
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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