A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255679



Internal ID22117680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1658921..1685197hg38UCSC Ensembl
Outerchr11:1680151..1706427hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236495
Supporting Variants
SamplesHG00512
Known GenesFAM99A, FAM99B, MOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255679
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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