A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259030



Internal ID22201308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66976235..67023834hg38UCSC Ensembl
Outerchr1:67441918..67489517hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3847600
hg1947600
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193903
Supporting Variants
SamplesHG00732
Known GenesMIER1, SLC35D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259030
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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