A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3339143



Internal ID19770121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87492172..87492172hg38UCSC Ensembl
chr13:88144427..88144427hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14541267, nssv14533784
SamplesHG04217, HX1
Known GenesMIR4500HG
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)nsv3339143
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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