A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253758



Internal ID22272140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124610756..124623148hg38UCSC Ensembl
Outerchr10:126299325..126311717hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381922
hg191922
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238865
Supporting Variants
SamplesNA19239
Known GenesFAM53B, LHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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