A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557052



Internal ID15997775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2149783hg38UCSC Ensembl
Innerchr12:2245636..2258949hg19UCSC Ensembl
Innerchr12:2115897..2129210hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3813314
hg1913314
hg1813314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786595, nssv786596, nssv786594, nssv786592, nssv786593
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557052
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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