A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14252664



Internal ID22264709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:81205627..81212536hg38UCSC Ensembl
Outerchr10:82965383..82972292hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg382587
hg192587
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244009
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14252664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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