A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337692



Internal ID19768670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71546066..71547882hg38UCSC Ensembl
chr12:71939846..71941662hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381817
hg191817
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14537080, nssv14549432
SamplesNA12878, NA19240
Known GenesLGR5
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)nsv3337692
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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