A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3417846



Internal ID19502135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:100853334..100853334hg38UCSC Ensembl
chrX:100108323..100108323hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14810319, nssv14806977, nssv14809695, nssv14800070
SamplesCHM13, HG02059, NA19434, NA19240
Known GenesNOX1
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)nsv3417846
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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