A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061450



Internal ID18803981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79703531..80135801hg38UCSC Ensembl
Innerchr18:77463531..77893684hg19UCSC Ensembl
Innerchr18:75564519..75994675hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38432271
hg19430154
hg18430157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3563065
Samples
Known GenesADNP2, CTDP1, HSBP1L1, KCNG2, PQLC1, RBFA, RBFADN, TXNL4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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