A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3333041



Internal ID19764019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71167972..71168324hg38UCSC Ensembl
chr11:70879018..70879370hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14519310, nssv14529000, nssv14524201
SamplesHG02818, 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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3333041
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer