A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253739



Internal ID22278978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:63701008..63826436hg38UCSC Ensembl
Outerchr10:65460768..65586196hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242431
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253739
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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