A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241061



Internal ID22374866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136554132..136652547hg38UCSC Ensembl
Outerchr9:139448584..139546999hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281424, nssv14281425, nssv14281426
SamplesHG00512, NA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241061
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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