A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443865



Internal ID22501735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:129446193..129471909hg38UCSC Ensembl
chrX:128580170..128605886hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3825717
hg1925717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5867651
Supporting Variants
Samples
Known GenesSMARCA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443865
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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