A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417217



Internal ID196420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:15460320..15460413hg38UCSC Ensembl
chrX:15478443..15478536hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17739400
Samples
Known GenesPIR, PIR-FIGF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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