A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14656125



Internal ID19665503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49746433..49746433hg38UCSC Ensembl
chr3:49783866..49783866hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3382891
Supporting Variants
SamplesHX1
Known GenesIP6K1
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)nssv14656125
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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