A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3334899



Internal ID19419191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103600852..103600852hg38UCSC Ensembl
chr12:103994630..103994630hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14547701, nssv14546142, nssv14536465
SamplesHG04217, HG00268, NA19240
Known GenesSTAB2
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)nsv3334899
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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