A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3382456



Internal ID19813435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31995101..32011700hg38UCSC Ensembl
chr6:31962878..31979477hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3816600
hg1916600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14730910
SamplesNA19434
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, TNXA, TNXB
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)nsv3382456
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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