A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272712



Internal ID22260556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151861954..151880056hg38UCSC Ensembl
Outerchr5:151241515..151259617hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3818103
hg1918103
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201838
Supporting Variants
SamplesNA19238
Known GenesGLRA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272712
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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