A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3371746



Internal ID19802724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196271996..196272189hg38UCSC Ensembl
chr3:195998867..195999060hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14800706, nssv14810457, nssv14809589, nssv14804608
SamplesHG02106, HG00268, NA19240, HG00514
Known GenesPCYT1A
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 mobile element insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3371746
Frequency
Sample Size14
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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