A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259113



Internal ID22193332
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249991
Supporting Variants
SamplesHG00731
Known GenesFRMD5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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