A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391223



Internal ID19822200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176530237..176530332hg38UCSC Ensembl
chr5:175957238..175957333hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14715304, nssv14724832, nssv14717274, nssv14730165, nssv14722437, nssv14712377, nssv14723824, nssv14718113, nssv14716975
SamplesHG02106, HG04217, CHM1, HG02818, HX1, HG02059, HG01352, NA19434, HG00514
Known GenesRNF44
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)nsv3391223
Frequency
Sample Size14
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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