A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468482



Internal ID22526371
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 StatusS
Merged Variantsnsv5977677
Supporting Variants
Samples
Known GenesGTPBP6, LINC00685, PLCXD1, PPP2R3B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468482
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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