A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041632



Internal ID18784163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2120846..2148419hg38UCSC Ensembl
Innerchr12:2230012..2257585hg19UCSC Ensembl
Innerchr12:2100273..2127846hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3827574
hg1927574
hg1827574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1339n100
Supporting Variantsnssv3513271
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)nsv1041632
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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