A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875055



Internal ID22650009
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 StatusM
Merged Variants
Supporting Variantsnssv17439068
Samples
Known GenesKLHL13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875055
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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