A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337589



Internal ID19768567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872843..50872843hg38UCSC Ensembl
chr12:51266626..51266626hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14518401, nssv14518668
SamplesHG04217, HX1
Known GenesTMPRSS12
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)nsv3337589
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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