A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264296



Internal ID22260963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:135208729..135224687hg38UCSC Ensembl
Outerchr2:135966299..135982257hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3815959
hg1915959
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199923
Supporting Variants
SamplesNA19238
Known GenesZRANB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264296
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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