A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529536



Internal ID22398928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50299807..50299882hg38UCSC Ensembl
chr14:50766525..50766600hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371501, nssv14371502
SamplesHG00513, HG00514
Known GenesL2HGDH
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529536
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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