A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229478



Internal ID22371320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13655653..13657342hg38UCSC Ensembl
Outerchr18:13655652..13657341hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381690
hg191690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261751
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229478
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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