A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412820



Internal ID19843796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120296566..120297163hg38UCSC Ensembl
chrX:119430421..119431018hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14793403, nssv14795223, nssv14798584
SamplesHG02106, NA19434, NA19240
Known GenesTMEM255A
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)nsv3412820
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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