A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5965140



Internal ID22740075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104855681..104855681hg38UCSC Ensembl
chrX:104100361..104100361hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432853
Samples
Known GenesIL1RAPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5965140
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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