A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273060



Internal ID22152677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:55938735..55955032hg38UCSC Ensembl
Outerchr1:56404408..56420705hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213885
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273060
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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