A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397886



Internal ID19828863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107847980..107848055hg38UCSC Ensembl
chr7:107488425..107488500hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813308
SamplesHG02059
Known Genes
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
CommentsAbsence of a SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3397886
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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