A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415269



Internal ID19846245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98393019..98393181hg38UCSC Ensembl
chr7:98022331..98022493hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14748987, nssv14741199
SamplesHG02818, HG01352
Known GenesBAIAP2L1
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)nsv3415269
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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