A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408430



Internal ID19839406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120463732..120463957hg38UCSC Ensembl
chrX:119597587..119597812hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813142
SamplesHG01352
Known GenesLAMP2
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)nsv3408430
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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