A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557008



Internal ID15997731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2053410..2055981hg38UCSC Ensembl
Innerchr12:2162576..2165147hg19UCSC Ensembl
Innerchr12:2032837..2035408hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382572
hg192572
hg182572
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2275n54
Supporting Variantsnssv786394
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557008
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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