A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429889



Internal ID22487759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152275142..152275142hg38UCSC Ensembl
chrX:151443614..151443614hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948651
Supporting Variants
Samples
Known GenesGABRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429889
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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