A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253148



Internal ID22218034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49729756..49754249hg38UCSC Ensembl
Outerchr10:50937802..50962295hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241781
Supporting Variants
SamplesHG00733
Known GenesOGDHL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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