A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942631



Internal ID22718072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52559510..52564933hg38UCSC Ensembl
chr14:53026228..53031651hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385424
hg195424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375070
Samples
Known GenesGPR137C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942631
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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