A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3387910



Internal ID19472203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55105974..55106166hg38UCSC Ensembl
chr5:54401802..54401994hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14693239, nssv14707781, nssv14695450, nssv14706131, nssv14704093, nssv14695003, nssv14710153, nssv14702924, nssv14706092, nssv14707170, nssv14695410, nssv14694008, nssv14706824, nssv14693635
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesGZMA
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)nsv3387910
Frequency
Sample Size14
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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