A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258773



Internal ID22215229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89008976..89013287hg38UCSC Ensembl
Outerchr1:89474659..89478970hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384312
hg194312
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208442
Supporting Variants
SamplesHG00733
Known GenesGBP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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