A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258121



Internal ID22191984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232321018..232335216hg38UCSC Ensembl
Outerchr1:232456764..232470962hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3814199
hg1914199
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195137
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258121
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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