A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3409714



Internal ID19840690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49326101..49346300hg38UCSC Ensembl
chrX:49182561..49221764hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3820200
hg1939204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14794000, nssv14811806, nssv14800212, nssv14796188, nssv14802573, nssv14792046, nssv14804887, nssv14793684, nssv14811427, nssv14799730, nssv14811717, nssv14792762
SamplesCHM13, HG02106, HG04217, CHM1, NA12878, HG02818, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesGAGE12F, GAGE12I, GAGE12J, GAGE13, GAGE2A, GAGE2C, GAGE2D, GAGE2E, GAGE4, GAGE5, GAGE7, GAGE8
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)nsv3409714
Frequency
Sample Size14
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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