A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977278



Internal ID22752213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73189448..73189448hg38UCSC Ensembl
chr14:73656156..73656156hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17374069
Samples
Known GenesPSEN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977278
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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