A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410114



Internal ID22467984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175944910..175945044hg38UCSC Ensembl
chr4:176866061..176866195hg19UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903807
Supporting Variants
Samples
Known GenesGPM6A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410114
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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