A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334087



Internal ID19765065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70740043..70740097hg38UCSC Ensembl
chr11:70586148..70586202hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14804792, nssv14796955, nssv14809780, nssv14809480, nssv14811663, nssv14798935, nssv14811065
SamplesHG04217, NA12878, HX1, HG01352, NA19434, HG00733, HG00514
Known GenesSHANK2
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)nsv3334087
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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