A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235825



Internal ID22373402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127707656..127727640hg38UCSC Ensembl
Outerchr10:129505920..129525904hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252924, nssv14252930, nssv14252925, nssv14252927, nssv14252931, nssv14252926, nssv14252928, nssv14252929
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235825
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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