A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244258



Internal ID22375811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:94261974..94317563hg38UCSC Ensembl
Outerchr9:97024256..97079845hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283577, nssv14283578, nssv14283579
SamplesHG00512, NA19238, HG00732
Known GenesZNF169
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244258
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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