A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274370



Internal ID22277649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:38257915..38288885hg38UCSC Ensembl
Outerchr4:38259536..38290506hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3830971
hg1930971
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193638
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274370
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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