A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239797



Internal ID22374531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132593932..132628054hg38UCSC Ensembl
Outerchr10:134407436..134441558hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253005, nssv14253007, nssv14253004, nssv14253006
SamplesHG00512, NA19238, NA19240, HG00514
Known GenesINPP5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239797
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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