A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975164



Internal ID22750099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91468667..91468667hg38UCSC Ensembl
chr14:91935011..91935011hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376301
Samples
Known GenesSMEK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975164
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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