A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416785



Internal ID19847760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:108041555..108041555hg38UCSC Ensembl
chrX:107284785..107284785hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14799311, nssv14805213, nssv14801606
SamplesHG00268, HG01352, HG00514
Known Genes
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)nsv3416785
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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