A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253710



Internal ID22144361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:44653961..44675133hg38UCSC Ensembl
Outerchr11:44675511..44696683hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231932
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253710
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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