A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973749



Internal ID22748684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74858838..74858838hg38UCSC Ensembl
chr14:75325541..75325541hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382963
Samples
Known GenesPROX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973749
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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