A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408409



Internal ID19839385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129642802..129642802hg38UCSC Ensembl
chr7:129282643..129282643hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14765357, nssv14767801, nssv14770428
SamplesNA12878, HX1, HG00514
Known GenesNRF1
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)nsv3408409
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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