A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253524



Internal ID22185945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75815219..75816930hg38UCSC Ensembl
Outerchr11:75526264..75527975hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg381712
hg191712
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228442
Supporting Variants
SamplesHG00731
Known GenesUVRAG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253524
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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