A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245894



Internal ID22376271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:312258..381702hg38UCSC Ensembl
Outerchr16:362258..431702hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381993
hg191993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259502, nssv14259504, nssv14259503, nssv14259505
SamplesHG00512, NA19238, NA19240, HG00514
Known GenesAXIN1, MRPL28, TMEM8A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245894
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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