A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271906



Internal ID22130765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:61066343..61088061hg38UCSC Ensembl
Outerchr4:61932061..61953779hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3821719
hg1921719
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190723
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271906
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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