A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14530131



Internal ID19508841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949995..6949995hg38UCSC Ensembl
chr12:7059158..7059158hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382309
hg192309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3337276
Supporting Variants
SamplesHG00733
Known GenesPTPN6
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)nssv14530131
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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