A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3397468



Internal ID19828445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3092582..3092922hg38UCSC Ensembl
chr6:3092816..3093156hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14719034, nssv14712723, nssv14719474, nssv14729682, nssv14717771, nssv14720001, nssv14727985, nssv14727692, nssv14713541, nssv14716881, nssv14724555
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, HG00733, HG00514
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)nsv3397468
Frequency
Sample Size14
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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