A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3329896



Internal ID19760874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53965957..53966044hg38UCSC Ensembl
chr10:55725717..55725804hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14492304, nssv14504638, nssv14499098, nssv14500006, nssv14511939, nssv14507138, nssv14511242, nssv14498604, nssv14509246, nssv14507837, nssv14501155, nssv14499488
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesPCDH15
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)nsv3329896
Frequency
Sample Size14
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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