A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402089



Internal ID19833065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:18262638..18262968hg38UCSC Ensembl
chrX:18280758..18281088hg19UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14722482, nssv14721966
SamplesHG02818, NA19434
Known GenesSCML2
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3402089
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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