A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943713



Internal ID22719166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75024235..75024540hg38UCSC Ensembl
chr14:75490938..75491243hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382508
Samples
Known GenesMLH3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943713
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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