A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979696



Internal ID22754631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:121940256..127968067hg38UCSC Ensembl
chrX:121074109..127102046hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386027812
hg196027938
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429762
Samples
Known GenesCXorf64, DCAF12L1, DCAF12L2, GRIA3, LOC100129520, SH2D1A, STAG2, TENM1, THOC2, XIAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979696
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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