A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273796



Internal ID22264103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:181546400..181560108hg38UCSC Ensembl
Outerchr4:182467553..182481261hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3813709
hg1913709
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199413
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273796
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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