A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253488



Internal ID22185837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69204881..69225594hg38UCSC Ensembl
Outerchr10:70964637..70985350hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381575
hg191575
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232710
Supporting Variants
SamplesHG00731
Known GenesHKDC1, SUPV3L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253488
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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