A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3335657



Internal ID19419949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122237732..122237732hg38UCSC Ensembl
chr12:122722279..122722279hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14534782, nssv14545781, nssv14538732, nssv14543581, nssv14533960
SamplesHG02106, HG02818, HX1, HG02059, NA19434
Known GenesVPS33A
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)nsv3335657
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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