A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3414943



Internal ID19499233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:24709122..24709122hg38UCSC Ensembl
chrX:24727239..24727239hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14811843, nssv14793938, nssv14801966, nssv14800874, nssv14798010, nssv14802800
SamplesHG02106, HG00268, HG02818, HX1, HG01352, HG00514
Known GenesPOLA1
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)nsv3414943
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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