A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254896



Internal ID22199955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118406309..118425148hg38UCSC Ensembl
Outerchr11:118277024..118295863hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383154
hg193154
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248365
Supporting Variants
SamplesHG00732
Known GenesATP5L, LOC100131626
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254896
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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