A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934999



Internal ID22710334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45141853..45143961hg38UCSC Ensembl
chr14:45611056..45613164hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382109
hg192109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381865
Samples
Known GenesFANCM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934999
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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