A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273781



Internal ID22139631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177393355..177408796hg38UCSC Ensembl
Outerchr4:178314509..178329950hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3815442
hg1915442
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204295
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273781
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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