A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958371



Internal ID22733442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127455723..127455723hg38UCSC Ensembl
chr5:126791415..126791415hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413895
Samples
Known GenesMEGF10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958371
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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