A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977677



Internal ID22752612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:250952..406744hg38UCSC Ensembl
chrX:167619..367479hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38155793
hg19199861
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17468482
Samples
Known GenesGTPBP6, LINC00685, PLCXD1, PPP2R3B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977677
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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