A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3384184



Internal ID19815163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170191743..170191818hg38UCSC Ensembl
chr6:170506967..170507042hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14739770, nssv14737258, nssv14738913, nssv14749243, nssv14736525
SamplesHG02106, HG04217, HG00268, HG02818, HG01352
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)nsv3384184
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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