A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3394129



Internal ID19825106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:151850109..151850109hg38UCSC Ensembl
chr6:152171244..152171244hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14734523, nssv14736429, nssv14745003, nssv14750766
SamplesHG00268, HG02818, HX1, HG00514
Known GenesESR1
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)nsv3394129
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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