A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261232



Internal ID22119538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72843181..72863767hg38UCSC Ensembl
Outerchr17:70839320..70859906hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg386276
hg196276
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230978
Supporting Variants
SamplesHG00512
Known GenesSLC39A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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