A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258272



Internal ID22192189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:67618018..67675245hg38UCSC Ensembl
Outerchr1:68083701..68140928hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3857228
hg1957228
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199446
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258272
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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