A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557071



Internal ID15997794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2373164..2416307hg38UCSC Ensembl
Innerchr12:2482330..2525473hg19UCSC Ensembl
Innerchr12:2352591..2395734hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3843144
hg1943144
hg1843144
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786688
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557071
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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