A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265276



Internal ID22186459
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197241
Supporting Variants
SamplesHG00731
Known GenesFAM134A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265276
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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