A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232710



Internal ID22372572
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253488
SamplesHG00731
Known GenesHKDC1, SUPV3L1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232710
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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