A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557042



Internal ID15997765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2127676..2148329hg38UCSC Ensembl
Innerchr12:2236842..2257495hg19UCSC Ensembl
Innerchr12:2107103..2127756hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820654
hg1920654
hg1820654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2284n54
Supporting Variantsnssv786520, nssv786521, nssv786518, nssv786519
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557042
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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