A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125579



Internal ID20692619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129597990..129599060hg38UCSC Ensembl
chr5:128933683..128934753hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412425
Supporting Variants
Samples
Known GenesADAMTS19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125579
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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