A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3321512



Internal ID19752490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500072..203500072hg38UCSC Ensembl
chr1:203469200..203469200hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14474130, nssv14487837, nssv14487848, nssv14485384, nssv14484891, nssv14483036, nssv14483154, nssv14480085, nssv14478244, nssv14476252, nssv14475137, nssv14473079, nssv14481913, nssv14487504
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesOPTC
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)nsv3321512
Frequency
Sample Size14
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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