A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367077



Internal ID19798055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241082875..241082926hg38UCSC Ensembl
chr2:242022290..242022341hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14795786
SamplesHG04217
Known GenesSNED1
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
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3367077
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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