A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062516



Internal ID18805047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80140666..80176786hg38UCSC Ensembl
Innerchr18:77898549..77934669hg19UCSC Ensembl
Innerchr18:75999540..76035660hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3836121
hg1936121
hg1836121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3563081
Samples
Known GenesPARD6G, PARD6G-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062516
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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