A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212496



Internal ID22359724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63814886..63814947hg38UCSC Ensembl
chr14:64281604..64281665hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2642n152
Supporting Variantsnssv14370298, nssv14370299
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212496
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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