A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14813142



Internal ID19537776
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 StatusS
Merged Variantsnsv3408430
Supporting Variants
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)nssv14813142
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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