A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225012



Internal ID22368274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:107690061..107724016hg38UCSC Ensembl
Outerchr1:108232683..108266638hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276239
SamplesHG00732
Known GenesVAV3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225012
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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