A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272940



Internal ID22229991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87339366..87358584hg38UCSC Ensembl
Outerchr4:88260518..88279736hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3819219
hg1919219
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191925
Supporting Variants
SamplesHG00733
Known GenesHSD17B11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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