A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391732



Internal ID19476023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86021303..86021303hg38UCSC Ensembl
chr4:86942456..86942456hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14685590, nssv14690501
SamplesNA19434, NA19240
Known GenesMAPK10
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)nsv3391732
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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