A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14511811



Internal ID19066508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45827801..45849300hg38UCSC Ensembl
chr10:46323249..46344748hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3821500
hg1921500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3328256
Supporting Variants
SamplesCHM1
Known GenesAGAP4
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)nssv14511811
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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