A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398933



Internal ID19483224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136240920..136240920hg38UCSC Ensembl
chr6:136562058..136562058hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14721440, nssv14724989
SamplesNA19434, NA19240
Known GenesMTFR2
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)nsv3398933
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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