A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050580



Internal ID19139799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5477247..5503911hg38UCSC Ensembl
Innerchr12:5586413..5613077hg19UCSC Ensembl
Innerchr12:5456674..5483338hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3826665
hg1926665
hg1826665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1348n100
Supporting Variantsnssv3502912, nssv3509255
Samples
Known GenesNTF3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050580
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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