A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557043



Internal ID15997766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2127676..2148750hg38UCSC Ensembl
Innerchr12:2236842..2257916hg19UCSC Ensembl
Innerchr12:2107103..2128177hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3821075
hg1921075
hg1821075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2284n54
Supporting Variantsnssv786523, nssv786522, nssv786524
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557043
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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