A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18120180



Internal ID20687220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72375089..72375418hg38UCSC Ensembl
chr4:73240806..73241135hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381898
Supporting Variants
Samples
Known GenesADAMTS3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18120180
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00121


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