A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259558



Internal ID22274749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:42555785..42580047hg38UCSC Ensembl
Outerchr15:42847983..42872245hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247298
Supporting Variants
SamplesNA19239
Known GenesHAUS2, STARD9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259558
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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