A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253824



Internal ID22257629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248694569..248763682hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3869114
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197900
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253824
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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