A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3339660



Internal ID19770638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113830488..113830637hg38UCSC Ensembl
chr13:114533461..114533610hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14540941, nssv14549693
SamplesHG02818, HG00514
Known GenesGAS6, GAS6-AS1
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)nsv3339660
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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