A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258675



Internal ID22118708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40049636..40052649hg38UCSC Ensembl
Outerchr15:40341837..40344850hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248631
Supporting Variants
SamplesHG00512
Known GenesSRP14-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258675
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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