A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942463



Internal ID22717901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110618134..110618208hg38UCSC Ensembl
chr13:111270481..111270555hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356135
Samples
Known GenesCARKD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942463
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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