A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212348



Internal ID22359626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55024639..55025319hg38UCSC Ensembl
chr14:55491357..55492037hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371876, nssv14371875, nssv14371873, nssv14371872, nssv14371874, nssv14371871
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesWDHD1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212348
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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