A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399028



Internal ID19830005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:141906162..141906162hg38UCSC Ensembl
chrX:140993948..140993948hg19UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14793730, nssv14797403, nssv14802799, nssv14806613, nssv14797677
SamplesHG02106, CHM1, HG02059, HG01352, NA19434
Known GenesMAGEC1
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)nsv3399028
Frequency
Sample Size14
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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