A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3319149



Internal ID19750124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120436616..120442968hg38UCSC Ensembl
chr1:144615224..144621574hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386353
hg196351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14476985, nssv14476454, nssv14480736, nssv14475971, nssv14487682, nssv14473480, nssv14479781, nssv14486105, nssv14478674, nssv14489004, nssv14482453
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesLOC100288142, NBPF8, NBPF9
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)nsv3319149
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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