A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253164



Internal ID22257680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:51301026..51319788hg38UCSC Ensembl
Outerchr10:53060786..53079548hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg381432
hg191432
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244941
Supporting Variants
SamplesNA19238
Known GenesPRKG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253164
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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