A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197241



Internal ID22347145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:219180656..219193802hg38UCSC Ensembl
Outerchr2:220045378..220058524hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3813147
hg1913147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265276, nssv14265277
SamplesHG00731, HG00733
Known GenesFAM134A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197241
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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