A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258231



Internal ID22201051
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237706
Supporting Variants
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)nssv14258231
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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