A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3323216



Internal ID19754194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248935801..248945900hg38UCSC Ensembl
chr1:249230000..249240099hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3810100
hg1910100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14494033, nssv14498271, nssv14494037, nssv14501023
SamplesHG02818, HG01352, NA19434, NA19240
Known Genes
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)nsv3323216
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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