A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17450557



Internal ID22508428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123681233..123683732hg38UCSC Ensembl
chr12:124165780..124168279hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5857598
Supporting Variants
Samples
Known GenesTCTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17450557
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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