A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249151



Internal ID22377191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100933829..100978906hg38UCSC Ensembl
Outerchr14:101400166..101445243hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg382064
hg192064
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2752n152
Supporting Variantsnssv14257957, nssv14257961, nssv14257958, nssv14257959, nssv14257960
SamplesNA19238, HG00731, HG00732, NA19240, HG00733
Known GenesSNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-9, 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)nsv3249151
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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