A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557033



Internal ID15997756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2106282..2143758hg38UCSC Ensembl
Innerchr12:2215448..2252924hg19UCSC Ensembl
Innerchr12:2085709..2123185hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3837477
hg1937477
hg1837477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786511
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557033
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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