A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3404663



Internal ID19835639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36614967..36615098hg38UCSC Ensembl
chr9:36614964..36615095hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814847
SamplesNA19434
Known GenesMELK
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)nsv3404663
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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