A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418933



Internal ID198087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12362465..12376135hg38UCSC Ensembl
chrX:12380584..12394254hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3813671
hg1913671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739282
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418933
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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