A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066704



Internal ID18809235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:80124685..80257174hg38UCSC Ensembl
Innerchr18:77882568..78015057hg19UCSC Ensembl
Innerchr18:75983559..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38132490
hg19132490
hg18132471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3414n100
Supporting Variantsnssv3563077, nssv3563078, nssv3563076
Samples
Known GenesADNP2, PARD6G, 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)nsv1066704
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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