A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256594



Internal ID22221079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34618593..34655429hg38UCSC Ensembl
Outerchr1:35084194..35121030hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3836837
hg1936837
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209340
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256594
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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