A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979315



Internal ID22754250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73063667..73093602hg38UCSC Ensembl
chrX:72283506..72313441hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3829936
hg1929936
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17452313
Samples
Known GenesPABPC1L2A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979315
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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