A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399702



Internal ID19830679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27210489..27210570hg38UCSC Ensembl
chrX:27228606..27228687hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14804873, nssv14800554, nssv14800051, nssv14793001, nssv14798063, nssv14811228, nssv14804218, nssv14795130, nssv14807325, nssv14811844
SamplesHG02106, HG04217, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, 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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3399702
Frequency
Sample Size14
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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