A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352347



Internal ID22578016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110613468..110624370hg38UCSC Ensembl
chr13:111265815..111276717hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3810903
hg1910903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929565
Supporting Variants
Samples
Known GenesCARKD
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352347
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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