A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334203



Internal ID19765181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76692528..76692603hg38UCSC Ensembl
chr11:76403572..76403647hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14527344, nssv14526816, nssv14513386
SamplesCHM1, HX1, NA19434
Known GenesGUCY2EP
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)nsv3334203
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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