A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14813577



Internal ID19616822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:9273312..9273468hg38UCSC Ensembl
chr10:9315275..9315431hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3330847
Supporting Variants
SamplesHG02818
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)nssv14813577
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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