A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943173



Internal ID22718618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73857178..73861176hg38UCSC Ensembl
chr14:74323881..74327879hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372524
Samples
Known GenesPTGR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943173
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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