A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274406



Internal ID22277654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:107352977..107370339hg38UCSC Ensembl
Outerchr4:108274134..108291496hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg3817363
hg1917363
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205819
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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