A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262052



Internal ID22222795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26245073..26256565hg38UCSC Ensembl
Outerchr18:23825037..23836529hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3811493
hg1911493
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210787
Supporting Variants
SamplesHG00733
Known GenesTAF4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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