A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416222



Internal ID19847197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:90233241..90233241hg38UCSC Ensembl
chr8:91245469..91245469hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14791234, nssv14780468, nssv14775918
SamplesHG00268, NA19240, HG00733
Known GenesLINC00534
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)nsv3416222
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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