A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348161



Internal ID19779139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88855508..88855678hg38UCSC Ensembl
chr15:89398739..89398909hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14560227, nssv14556522, nssv14570164
SamplesHG04217, HG02818, HX1
Known GenesACAN
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)nsv3348161
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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