A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271509



Internal ID22186974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:135346081..135425425hg38UCSC Ensembl
Outerchr3:135064923..135144267hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3879345
hg1979345
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190973
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271509
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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