A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254707



Internal ID22325033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71899757..71928217hg38UCSC Ensembl
Outerchr11:71610803..71639263hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3820204
hg1920204
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240442
Supporting Variants
SamplesNA19240
Known GenesLOC100133315
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254707
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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