A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899744



Internal ID22674877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115217173..115217316hg38UCSC Ensembl
chr5:114552870..114553013hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421346
Samples
Known GenesPGGT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899744
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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