A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14545511



Internal ID19654314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70626255..70626255hg38UCSC Ensembl
chr12:71020035..71020035hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386040
hg196040
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3338278
Supporting Variants
SamplesHX1
Known GenesPTPRB
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)nssv14545511
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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