A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3395317



Internal ID19826294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694525..2694525hg38UCSC Ensembl
chr6:2694759..2694759hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14715693, nssv14715492, nssv14713575, nssv14728198, nssv14713009, nssv14719455, nssv14718056, nssv14712202, nssv14715808, nssv14731837, nssv14714271, nssv14720914, nssv14723774
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesMYLK4
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)nsv3395317
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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