A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3378156



Internal ID19809134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467459..106467459hg38UCSC Ensembl
chr2:107083915..107083915hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14629211, nssv14618729, nssv14620319, nssv14618790, nssv14627042, nssv14627067, nssv14621921, nssv14624390, nssv14630356, nssv14613901
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HG02059, NA19434, HG00733, HG00514
Known GenesRGPD3
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)nsv3378156
Frequency
Sample Size14
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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