A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18006752



Internal ID20573792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100672601..100675500hg38UCSC Ensembl
chr13:101324855..101327754hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477582
Supporting Variants
Samples
Known GenesTMTC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18006752
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00257


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