A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17432935



Internal ID22490805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:111171390..111171449hg38UCSC Ensembl
chrX:110414618..110414677hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871305
Supporting Variants
Samples
Known GenesPAK3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17432935
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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