A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3723247



Internal ID18674842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78538045..80257174hg38UCSC Ensembl
Innerchr18:76298045..78015057hg19UCSC Ensembl
Innerchr18:74399033..76116029hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381719130
hg191717013
hg181716997
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065902
Supporting Variants
Samples
Known GenesADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, SALL3, TXNL4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3723247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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