A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113619



Internal ID21296885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:7079705..7577539hg38UCSC Ensembl
Innerchr18:7079704..7577537hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38497835
hg19497834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14099356
Samplessample173
Known GenesLAMA1, LRRC30, PTPRM
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113619
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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