A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18132152



Internal ID20699192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72336664..72337907hg38UCSC Ensembl
chr5:71632491..71633734hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410266
Supporting Variants
Samples
Known GenesPTCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18132152
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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