A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236201



Internal ID22373512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132617539..132626190hg38UCSC Ensembl
Outerchr10:134431043..134439694hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253008, nssv14253009, nssv14253011, nssv14253010
SamplesHG00512, NA19238, NA19239, HG00731
Known GenesINPP5A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236201
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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