A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271908



Internal ID22189090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61114670..61153572hg38UCSC Ensembl
Outerchr4:61980388..62019290hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3838903
hg1938903
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201521
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271908
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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