A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3337384



Internal ID19421676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27961285..27961285hg38UCSC Ensembl
chr12:28114218..28114218hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14527459, nssv14531937, nssv14526346, nssv14526218, nssv14529722, nssv14517017, nssv14512733, nssv14517576, nssv14521449
SamplesHG02106, HG04217, CHM1, HG00268, HX1, HG01352, NA19434, HG00733, HG00514
Known GenesPTHLH
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)nsv3337384
Frequency
Sample Size14
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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