A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043329



Internal ID18785860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1877072..1925721hg38UCSC Ensembl
Innerchr12:1986238..2034887hg19UCSC Ensembl
Innerchr12:1856499..1905148hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3848650
hg1948650
hg1848650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3509839
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)nsv1043329
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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