A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246826



Internal ID22376539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101597522..101616276hg38UCSC Ensembl
chrX:100852500..100871266hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3818755
hg1918767
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455445, nssv14462576, nssv14465547, nssv14463957, nssv14463391, nssv14455729, nssv14454317, nssv14456591
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesARMCX6
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246826
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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