A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14801523



Internal ID19498548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133635183..133635452hg38UCSC Ensembl
chrX:132769211..132769480hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3399137
Supporting Variants
SamplesHG00514
Known GenesGPC3
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)nssv14801523
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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