A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271518



Internal ID22186942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:158231037..158269744hg38UCSC Ensembl
Outerchr3:157948826..157987533hg19UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg3838708
hg1938708
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193490
Supporting Variants
SamplesHG00731
Known GenesRSRC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271518
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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