A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376527



Internal ID19807505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68941764..68941764hg38UCSC Ensembl
chr2:69168896..69168896hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386039
hg196039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14623070, nssv14624991, nssv14613289
SamplesHG02818, NA19434, NA19240
Known Genes
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)nsv3376527
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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