A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270894



Internal ID22204714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184936249..184989852hg38UCSC Ensembl
Outerchr3:184654037..184707640hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3853604
hg1953604
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205106
Supporting Variants
SamplesHG00732
Known GenesVPS8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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