A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14554507



Internal ID19552479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28744201..28778600hg38UCSC Ensembl
chr15:28989347..29023746hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3834400
hg1934400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3351306
Supporting Variants
SamplesHG02059
Known GenesWHAMMP2
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)nssv14554507
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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