A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3376767



Internal ID19807745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62229965..62230291hg38UCSC Ensembl
chr2:62457100..62457426hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14577094, nssv14578181, nssv14578233, nssv14577126
SamplesHG02106, CHM1, HG02818, HG02059
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3376767
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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