A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3387820



Internal ID19472112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3090745..3092697hg38UCSC Ensembl
chr6:3090979..3092931hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg381953
hg191953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14712772, nssv14719454
SamplesNA19434, NA19240
Known GenesRIPK1
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)nsv3387820
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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