A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391187



Internal ID19822164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44146440..44146440hg38UCSC Ensembl
chr6:44114177..44114177hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38968
hg19968
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14731093, nssv14731271, nssv14712890
SamplesHX1, HG02059, HG00514
Known GenesTMEM63B
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)nsv3391187
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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