A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952453



Internal ID22727768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104879365..104879365hg38UCSC Ensembl
chrX:104124046..104124046hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440027
Samples
Known GenesIL1RAPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952453
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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