A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352063



Internal ID22577732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112068498..112068566hg38UCSC Ensembl
chr13:112722812..112722880hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933831
Supporting Variants
Samples
Known GenesSOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352063
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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