A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275065



Internal ID22119781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182628207..182665675hg38UCSC Ensembl
Outerchr4:183549360..183586828hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3837469
hg1937469
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201423
Supporting Variants
SamplesHG00512
Known GenesTENM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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