A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257623



Internal ID22144959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45575637..45589521hg38UCSC Ensembl
Outerchr1:46041309..46055193hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3813885
hg1913885
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208493
Supporting Variants
SamplesHG00514
Known GenesNASP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257623
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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