A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527247



Internal ID22396633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76347430..76347865hg38UCSC Ensembl
chr14:76813773..76814208hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372201, nssv14372202, nssv14372206, nssv14372203, nssv14372205, nssv14372204
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527247
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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