A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229221



Internal ID22371134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:73530300..73532120hg38UCSC Ensembl
Outerchr18:71197535..71199355hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg381821
hg191821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261767
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229221
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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