A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337276



Internal ID19768254
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 StatusM
Merged Variants
Supporting Variantsnssv14512396, nssv14525602, nssv14515692, nssv14527633, nssv14522499, nssv14517654, nssv14515025, nssv14516656, nssv14530108, nssv14528696, nssv14531525, nssv14530131, nssv14515534
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
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)nsv3337276
Frequency
Sample Size14
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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