A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948670



Internal ID22724147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18334618..18334618hg38UCSC Ensembl
chrX:18352738..18352738hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38859
hg19859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449103
Samples
Known GenesSCML2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948670
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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