A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275216



Internal ID22277142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:65160537..65173204hg38UCSC Ensembl
Outerchr5:64456364..64469031hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381625
hg191625
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224330
Supporting Variants
SamplesNA19239
Known GenesADAMTS6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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