A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265527



Internal ID22146108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228394963..228404945hg38UCSC Ensembl
Outerchr2:229259679..229269661hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg389983
hg199983
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207314
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265527
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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