A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231031



Internal ID22372107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:98594658..98611936hg38UCSC Ensembl
Outerchr9:101356940..101374218hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283591, nssv14283593, nssv14283590, nssv14283592, nssv14283589, nssv14283588, nssv14283587
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00514
Known GenesGABBR2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231031
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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