A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557047



Internal ID15997770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2142340hg38UCSC Ensembl
Innerchr12:2245636..2251506hg19UCSC Ensembl
Innerchr12:2115897..2121767hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385871
hg195871
hg185871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2285n54
Supporting Variantsnssv786540
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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