A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391728



Internal ID19822705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71329201..71384400hg38UCSC Ensembl
chr5:70625028..70680227hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3855200
hg1955200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14706379, nssv14701268, nssv14694189
SamplesHG04217, NA12878, NA19434
Known GenesPMCHL2
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)nsv3391728
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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