A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337821



Internal ID19768799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71365413..71365501hg38UCSC Ensembl
chr12:71759193..71759281hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14541698, nssv14535528, nssv14551420, nssv14540901, nssv14550257, nssv14545186
SamplesCHM13, HG04217, HG02818, NA19240, HG00733, HG00514
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3337821
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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