A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254052



Internal ID22326986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168049888..168067839hg38UCSC Ensembl
Outerchr1:168019126..168037077hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3817952
hg1917952
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205449
Supporting Variants
SamplesNA19240
Known GenesDCAF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254052
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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