A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253236



Internal ID22270682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:37195862..37247129hg38UCSC Ensembl
Outerchr10:37484790..37536057hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3815295
hg1915295
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244360
Supporting Variants
SamplesNA19239
Known GenesANKRD30A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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