A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3379980



Internal ID19810958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174320515..174320515hg38UCSC Ensembl
chr4:175241666..175241666hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg382639
hg192639
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14705213, nssv14709677, nssv14696224, nssv14696425, nssv14709746, nssv14695215, nssv14696916, nssv14699724, nssv14696168, nssv14696360, nssv14697080, nssv14695812
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesCEP44
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)nsv3379980
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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