A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271116



Internal ID22135387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:29742496..29793579hg38UCSC Ensembl
Outerchr3:29783987..29835070hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3851084
hg1951084
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207775
Supporting Variants
SamplesHG00513
Known GenesRBMS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271116
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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