A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371444



Internal ID19802423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55456304..55456304hg38UCSC Ensembl
chr19:55967671..55967671hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14620456, nssv14629342, nssv14631957, nssv14625191, nssv14626513
SamplesCHM13, HX1, HG02059, NA19240, HG00733
Known GenesISOC2
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)nsv3371444
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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