A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557053



Internal ID15997776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136470..2171776hg38UCSC Ensembl
Innerchr12:2245636..2280942hg19UCSC Ensembl
Innerchr12:2115897..2151203hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835307
hg1935307
hg1835307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786597
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557053
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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