A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382587



Internal ID22440457
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 StatusS
Merged Variantsnsv5934251
Supporting Variants
Samples
Known GenesCGRRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382587
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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