A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043992



Internal ID18786523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56582542..56616674hg38UCSC Ensembl
Innerchr12:56976326..57010458hg19UCSC Ensembl
Innerchr12:55262593..55296725hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3834133
hg1934133
hg1834133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523602
Samples
Known GenesBAZ2A, RBMS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043992
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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