A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3389034



Internal ID19473325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148209993..148209993hg38UCSC Ensembl
chr5:147589556..147589556hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14727176, nssv14720519, nssv14730854, nssv14713890, nssv14717830, nssv14729181, nssv14730709
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HG00733
Known GenesSPINK6
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)nsv3389034
Frequency
Sample Size14
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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