A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3330202



Internal ID19761180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86991519..86991572hg38UCSC Ensembl
chr10:88751276..88751329hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14508830, nssv14509915, nssv14496527
SamplesCHM13, NA19434, NA19240
Known GenesAGAP11
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)nsv3330202
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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