A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896992



Internal ID22672089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151869543..151873488hg38UCSC Ensembl
chr5:151249104..151253049hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410438
Samples
Known GenesGLRA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896992
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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