A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3400657



Internal ID19831634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:636518..636697hg38UCSC Ensembl
chrX:597253..597432hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14793024, nssv14799312, nssv14805623, nssv14793406, nssv14809160, nssv14810343, nssv14799778, nssv14807854, nssv14811054, nssv14800716, nssv14795293, nssv14807568, nssv14810974
SamplesCHM13, HG02106, CHM1, HG00268, NA12878, HG02818, HX1, HG02059, HG01352, NA19434, NA19240, HG00733, HG00514
Known GenesSHOX
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)nsv3400657
Frequency
Sample Size14
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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