A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3402804



Internal ID19833780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:45434813..45434873hg38UCSC Ensembl
chrX:45294058..45294118hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV line1 deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14797185, nssv14805662, nssv14797789, nssv14807345, nssv14796923, nssv14802552
SamplesHG04217, HG00268, HG02818, NA19434, NA19240, HG00733
Known Genes
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)nsv3402804
Frequency
Sample Size14
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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