A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3385183



Internal ID19816161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64975413..64975413hg38UCSC Ensembl
chr4:65841131..65841131hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14673003, nssv14679800, nssv14680298
SamplesHG04217, CHM1, HG01352
Known GenesLOC401134
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)nsv3385183
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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