A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973208



Internal ID22748143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:103926471..104106380hg38UCSC Ensembl
chrX:103181052..103351063hg19UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38179910
hg19170012
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17440633
Samples
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256, SLC25A53, TMSB15B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973208
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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