A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5896089



Internal ID22671178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173018801..173021292hg38UCSC Ensembl
chr5:172445804..172448295hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382492
hg192492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413166
Samples
Known GenesATP6V0E1, SNORA74B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5896089
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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