A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230978



Internal ID22372091
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261232
SamplesHG00512
Known GenesSLC39A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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