A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3401460



Internal ID19485751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:119647970..119647970hg38UCSC Ensembl
chrX:118781933..118781933hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14805985, nssv14798796
SamplesHG02818, NA19434
Known GenesSEPT6
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)nsv3401460
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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