A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415064



Internal ID19846040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:35692288..35692288hg38UCSC Ensembl
chrX:35710405..35710405hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14811945, nssv14810074, nssv14807981, nssv14808086, nssv14811803
SamplesCHM13, HG02106, HG04217, NA12878, HG02059
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3415064
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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