A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265409



Internal ID22284010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121297742..121337655hg38UCSC Ensembl
Outerchr2:122055318..122095231hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3839914
hg1939914
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203485
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265409
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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