A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214903



Internal ID22361410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155775826..155827806hg38UCSC Ensembl
Outerchr3:155493615..155545595hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272088
SamplesHG00732
Known GenesC3orf33, SLC33A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214903
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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