A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190385



Internal ID22341258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172683126..172696078hg38UCSC Ensembl
Outerchr2:173547854..173560806hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3812953
hg1912953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264700
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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