A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3551726



Internal ID22420632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52070847..52192188hg38UCSC Ensembl
chrX:51813943..51935284hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38121342
hg19121342
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14463935, nssv14466203, nssv14456401, nssv14456238, nssv14458686, nssv14463950, nssv14458809
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAGED4, MAGED4B, SNORA11D, SNORA11E
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3551726
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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