A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259376



Internal ID22132800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:72299646..72390327hg38UCSC Ensembl
Outerchr1:72765329..72856010hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3890682
hg1990682
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207611
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259376
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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