A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202111



Internal ID22351317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118299162..118315548hg38UCSC Ensembl
Outerchr2:119056738..119073124hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3816387
hg1916387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4767n152
Supporting Variantsnssv14265408, nssv14265407
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202111
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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