A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253530



Internal ID22130752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149295701..149381140hg38UCSC Ensembl
Outerchr1:145049840..145198298hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3885440
hg19148459
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201264
Supporting Variants
SamplesHG00513
Known GenesLOC100288142, NBPF9, PDE4DIP, SEC22B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253530
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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