A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257915



Internal ID22275599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:49246985..49263671hg38UCSC Ensembl
Outerchr15:49539182..49555868hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3816687
hg1916687
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226635
Supporting Variants
SamplesNA19239
Known GenesGALK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257915
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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