A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258896



Internal ID22193043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222190620..222204379hg38UCSC Ensembl
Outerchr1:222363962..222377721hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3813760
hg1913760
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208259
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258896
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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