A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040260



Internal ID18782791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1838027..1874616hg38UCSC Ensembl
Innerchr12:1947193..1983782hg19UCSC Ensembl
Innerchr12:1817454..1854043hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3836590
hg1936590
hg1836590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1338n100
Supporting Variantsnssv3511895
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040260
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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