A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249991



Internal ID22377413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:44100930..44111938hg38UCSC Ensembl
Outerchr15:44393128..44404136hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3873140
hg1973140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259113
SamplesHG00731
Known GenesFRMD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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