A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975732



Internal ID22750667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73719828..73719828hg38UCSC Ensembl
chr14:74186531..74186531hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378416
Samples
Known GenesELMSAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975732
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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