A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429809



Internal ID208644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:12472893..12474189hg38UCSC Ensembl
chrX:12491012..12492308hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739286
Samples
Known GenesFRMPD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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