A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439068



Internal ID22496938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:118095921..118242149hg38UCSC Ensembl
chrX:117229884..117376112hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38146229
hg19146229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5875055
Supporting Variants
Samples
Known GenesKLHL13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439068
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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