A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237706



Internal ID22373947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100942671..100978906hg38UCSC Ensembl
Outerchr14:101409008..101445243hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2752n152
Supporting Variantsnssv14258231
SamplesHG00732
Known GenesSNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237706
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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