A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14549432



Internal ID19678925
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 StatusS
Merged Variantsnsv3337692
Supporting Variants
SamplesNA12878
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)nssv14549432
Frequency
Sample Size14
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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