A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060634



Internal ID18803165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79937207..80054070hg38UCSC Ensembl
Innerchr18:77697207..77814070hg19UCSC Ensembl
Innerchr18:75798195..75915058hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38116864
hg19116864
hg18116864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3412n100
Supporting Variantsnssv3563067
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)nsv1060634
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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