A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274430



Internal ID22278330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:141308678..141316689hg38UCSC Ensembl
Outerchr4:142229832..142237843hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg388012
hg198012
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205479
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274430
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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