A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500071



Internal ID277016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100905542..100906152hg38UCSC Ensembl
chr14:101371879..101372489hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698824
Samples
Known GenesMEG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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