A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254997



Internal ID22216847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63878602..63904634hg38UCSC Ensembl
Outerchr11:63646074..63672106hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3828586
hg1928586
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231538
Supporting Variants
SamplesHG00733
Known GenesMARK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254997
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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