A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243558



Internal ID22375609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:51669469..51713883hg38UCSC Ensembl
chrX:51412401..51456979hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3844415
hg1944579
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14460279, nssv14466808, nssv14458420, nssv14455520, nssv14452884, nssv14464694, nssv14461651, nssv14459832
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCENPVP1, CENPVP2
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243558
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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