A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271480



Internal ID22188812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:6603195..6618775hg38UCSC Ensembl
Outerchr3:6644882..6660462hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3815581
hg1915581
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191704
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271480
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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