A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273021



Internal ID22312348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:114986352..115027775hg38UCSC Ensembl
Outerchr4:115907508..115948931hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3841424
hg1941424
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204411
Supporting Variants
SamplesNA19240
Known GenesNDST4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273021
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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