A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934251



Internal ID22709574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54518977..54519271hg38UCSC Ensembl
chr14:54985695..54985989hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382587
Samples
Known GenesCGRRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934251
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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