A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3394309



Internal ID19825286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65732257..65734553hg38UCSC Ensembl
chr5:65028084..65030380hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg382297
hg192297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14707572, nssv14707416, nssv14693568, nssv14696699, nssv14694884, nssv14708275
SamplesHG04217, NA12878, HG02059, NA19434, NA19240, HG00733
Known GenesNLN
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)nsv3394309
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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