A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385522



Internal ID22443392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112986121..112986242hg38UCSC Ensembl
chr13:113640435..113640556hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942863
Supporting Variants
Samples
Known GenesMCF2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385522
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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