A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3324723



Internal ID19755702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52869943..52869943hg38UCSC Ensembl
chr1:53335615..53335615hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14480752, nssv14478724, nssv14491059
SamplesCHM13, NA19434, HG00733
Known GenesZYG11A
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)nsv3324723
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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