A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272820



Internal ID22183694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145981008..146012025hg38UCSC Ensembl
Outerchr4:146902160..146933177hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3831018
hg1931018
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200167
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272820
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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