A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554148



Internal ID327344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30476920..30560649hg38UCSC Ensembl
chrX:30495037..30578766hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3883730
hg1983730
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736403
Samples
Known GenesCXorf21
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554148
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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