A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14742155



Internal ID19704226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:97903101..97916800hg38UCSC Ensembl
chr7:97532413..97546112hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3813700
hg1913700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3405098
Supporting Variants
SamplesNA19240
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)nssv14742155
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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