A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249196



Internal ID22377205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137833314..137857266hg38UCSC Ensembl
Outerchr9:140727766..140751718hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382521
hg192521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281444, nssv14281445, nssv14281446
SamplesHG00731, HG00732, NA19240
Known GenesEHMT1, MIR602
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249196
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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