A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397712



Internal ID19482003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44390908..44390971hg38UCSC Ensembl
chr6:44358645..44358708hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14726946, nssv14712106, nssv14728494, nssv14730497, nssv14724416
SamplesCHM13, CHM1, HG00268, HG02818, HG01352
Known GenesCDC5L
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)nsv3397712
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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