A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414324



Internal ID19498615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:40080062..40080062hg38UCSC Ensembl
chrX:39939315..39939315hg19UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14796724, nssv14793206, nssv14809727, nssv14797584
SamplesHX1, HG02059, NA19434, HG00514
Known GenesBCOR
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3414324
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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