A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3404839



Internal ID19835815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125577589..125577589hg38UCSC Ensembl
chr9:128339868..128339868hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14780630, nssv14773171
SamplesCHM13, HX1
Known GenesMAPKAP1
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)nsv3404839
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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