A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366090



Internal ID19797068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181491246..181491560hg38UCSC Ensembl
chr2:182355973..182356287hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14599351, nssv14595746, nssv14604450, nssv14597842, nssv14593119, nssv14606009, nssv14600222, nssv14603955, nssv14600427, nssv14592660, nssv14610490, nssv14597064
SamplesCHM13, HG02106, HG04217, CHM1, HG00268, NA12878, HX1, HG02059, HG01352, NA19240, HG00733, HG00514
Known GenesITGA4
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
CommentsAbsence of a Alu insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3366090
Frequency
Sample Size14
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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