A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258913



Internal ID22193100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:223250638..223263196hg38UCSC Ensembl
Outerchr1:223423980..223436538hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3812559
hg1912559
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198140
Supporting Variants
SamplesHG00731
Known GenesSUSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258913
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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