A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231051



Internal ID22372115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:126220208..126256409hg38UCSC Ensembl
Outerchr10:127908777..127944978hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252886, nssv14252887, nssv14252885, nssv14252888, nssv14252884
SamplesHG00512, NA19238, HG00731, HG00733, HG00513
Known GenesADAM12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231051
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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