A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053109



Internal ID18795640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2138266..2150789hg38UCSC Ensembl
Innerchr12:2247432..2259955hg19UCSC Ensembl
Innerchr12:2117693..2130216hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812524
hg1912524
hg1812524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1341n100
Supporting Variantsnssv3505723, nssv3511609
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)nsv1053109
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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