A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3344143



Internal ID19775121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64888201..64900900hg38UCSC Ensembl
chr17:62884319..62897018hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3812700
hg1912700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14578430, nssv14579373, nssv14576621, nssv14574748, nssv14578231, nssv14581769, nssv14581006, nssv14583353
SamplesHG02106, HG04217, CHM1, NA12878, HG02818, HG02059, HG01352, HG00733
Known GenesLRRC37A3
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)nsv3344143
Frequency
Sample Size14
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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