A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259751



Internal ID22257805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30122611..30127866hg38UCSC Ensembl
Outerchr16:30133932..30139187hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238608
Supporting Variants
SamplesNA19238
Known GenesMAPK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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