A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043220



Internal ID18785751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48651675..48672204hg38UCSC Ensembl
Innerchr12:49045458..49065987hg19UCSC Ensembl
Innerchr12:47331725..47352254hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3820530
hg1920530
hg1820530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1496n100
Supporting Variantsnssv3523524, nssv3523525
Samples
Known GenesKANSL2, MIR1291, SNORA2A, SNORA2B, SNORA34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043220
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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