A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963992



Internal ID22738927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151849104..151849104hg38UCSC Ensembl
chr5:151228665..151228665hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17412229
Samples
Known GenesGLRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963992
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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