A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270363



Internal ID22260360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17659367..17685889hg38UCSC Ensembl
Outerchr3:17700859..17727381hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3826523
hg1926523
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191643
Supporting Variants
SamplesNA19238
Known GenesTBC1D5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270363
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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