A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271537



Internal ID22197812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105261414..105273276hg38UCSC Ensembl
Outerchr3:104980258..104992120hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3811863
hg1911863
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198385
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271537
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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