A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3391037



Internal ID19822014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6185337..6185424hg38UCSC Ensembl
chr6:6185570..6185657hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14790036, nssv14780598
SamplesCHM1, HX1
Known GenesF13A1
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 L1 insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3391037
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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