A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3411199



Internal ID19495489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:10032951..10032951hg38UCSC Ensembl
chrX:10000991..10000991hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14811893, nssv14799052
SamplesHG02818, NA19434
Known GenesWWC3
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)nsv3411199
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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