A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892076



Internal ID22667121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115581315..115616316hg38UCSC Ensembl
chr5:114917012..114952013hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3835002
hg1935002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423099
Samples
Known GenesTICAM2, TMED7, TMED7-TICAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892076
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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