A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947925



Internal ID22723417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:104849355..104849355hg38UCSC Ensembl
chrX:104094035..104094035hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439011
Samples
Known GenesIL1RAPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947925
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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