A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3563066



Internal ID18514661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79915963..80054070hg38UCSC Ensembl
Innerchr18:77675963..77814070hg19UCSC Ensembl
Innerchr18:75776951..75915058hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38138108
hg19138108
hg18138108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058547
Supporting Variants
Samples
Known GenesHSBP1L1, PQLC1, RBFA, TXNL4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3563066
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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