A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3409316



Internal ID19840292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:101836461..101836547hg38UCSC Ensembl
chrX:101091433..101091519hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814356, nssv14814613, nssv14812348
SamplesCHM1, NA12878, NA19240
Known GenesNXF5
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3409316
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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