A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254270



Internal ID22253549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1757780..1779809hg38UCSC Ensembl
Outerchr11:1779010..1801039hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235613
Supporting Variants
SamplesNA19238
Known GenesCTSD, MOB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254270
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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