A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417450



Internal ID196647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12253662..12253722hg38UCSC Ensembl
chrX:12271781..12271841hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739279
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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