A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5951085



Internal ID22726467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100657349..100657349hg38UCSC Ensembl
chrX:99912346..99912346hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441417
Samples
Known GenesSRPX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5951085
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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