A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3555107



Internal ID22423953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73004367..73079523hg38UCSC Ensembl
chrX:72224206..72299362hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3875157
hg1975157
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14467120, nssv14463696, nssv14455216, nssv14460244
SamplesNA19238, HG00731, NA19240, HG00733
Known GenesPABPC1L2A, PABPC1L2B
MethodSequencing
AnalysisSingle strand sequencing, and assortment analysis
PlatformStrand-seq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3555107
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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