A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14811373



Internal ID19600592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:52670801..52689500hg38UCSC Ensembl
chrX:52699851..52718550hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg3818700
hg1918700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3411875
Supporting Variants
SamplesHG02106
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)nssv14811373
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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