A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195158



Internal ID22345377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:59392087..59405983hg38UCSC Ensembl
Outerchr2:59619222..59633118hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3813897
hg1913897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264671, nssv14264672
SamplesHG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195158
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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