A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3373323



Internal ID19804301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88181554..88181554hg38UCSC Ensembl
chr2:88481073..88481073hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14614785, nssv14630867, nssv14615954
SamplesNA19434, NA19240, HG00514
Known GenesTHNSL2
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)nsv3373323
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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