A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412429



Internal ID19843405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130222007..130222007hg38UCSC Ensembl
chr9:132984286..132984286hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14779648, nssv14773911, nssv14778850, nssv14782502, nssv14787874, nssv14790794, nssv14773785, nssv14791999, nssv14788870, nssv14782516, nssv14774527, nssv14779851
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733
Known GenesNCS1
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)nsv3412429
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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