A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556729



Internal ID329859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46862409..47356182hg38UCSC Ensembl
chrX:46721844..47215581hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38493774
hg19493738
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17736767
Samples
Known GenesCDK16, CXorf31, INE1, JADE3, NDUFB11, RBM10, RGN, RP2, UBA1, USP11
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556729
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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