A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557049



Internal ID15997772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2146161hg38UCSC Ensembl
Innerchr12:2245636..2255327hg19UCSC Ensembl
Innerchr12:2115897..2125588hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389692
hg199692
hg189692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2286n54
Supporting Variantsnssv786547, nssv786546, nssv786548, nssv786545, nssv786544
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557049
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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