A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5867594



Internal ID22642529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72239538..72242782hg38UCSC Ensembl
chrX:71459388..71462632hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg383245
hg193245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17464857
Samples
Known GenesPIN4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5867594
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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