A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260247



Internal ID22201710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69337087..69341383hg38UCSC Ensembl
Outerchr1:69802770..69807066hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384297
hg194297
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191936
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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