A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3398176



Internal ID19482467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152139719..152139719hg38UCSC Ensembl
chr6:152460854..152460854hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14733325, nssv14747368, nssv14740991, nssv14748112, nssv14739764
SamplesCHM1, HG02818, HG02059, HG01352, NA19434
Known GenesSYNE1
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)nsv3398176
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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