A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3346702



Internal ID19430994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17315094..17315195hg38UCSC Ensembl
chr19:17425903..17426004hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14609107, nssv14604688, nssv14600967
SamplesHG02818, NA19240, HG00733
Known GenesDDA1
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)nsv3346702
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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