A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253443



Internal ID22322262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13439189..13470735hg38UCSC Ensembl
Outerchr1:13765656..13797203hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3831547
hg1931548
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194273
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253443
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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