A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219907



Internal ID22364777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195098333..195111910hg38UCSC Ensembl
Outerchr3:194819062..194832639hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272538
SamplesHG00512
Known GenesXXYLT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219907
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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