A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886228



Internal ID22661214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12472895..12474188hg38UCSC Ensembl
chrX:12491014..12492307hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434477
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886228
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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