A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258643



Internal ID22314537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33146227..33161968hg38UCSC Ensembl
Outerchr15:33438428..33454169hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241376
Supporting Variants
SamplesNA19240
Known GenesFMN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258643
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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