A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213252



Internal ID22360258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76933601..76936000hg38UCSC Ensembl
chr14:77399944..77402343hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382400
hg192400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2674n152
Supporting Variantsnssv14372244, nssv14372252, nssv14372248, nssv14372247, nssv14372246, nssv14372245, nssv14372249, nssv14372251, nssv14372250
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213252
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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