A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253905



Internal ID22309517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:47555344..47565611hg38UCSC Ensembl
Outerchr11:47576896..47587163hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248579
Supporting Variants
SamplesNA19240
Known GenesPTPMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253905
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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