A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255037



Internal ID22131262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67495292..67501190hg38UCSC Ensembl
Outerchr11:67262763..67268661hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38770
hg19770
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230981
Supporting Variants
SamplesHG00513
Known GenesPITPNM1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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