A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412142



Internal ID19843118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130148916..130148916hg38UCSC Ensembl
chrX:129282891..129282891hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14806487
SamplesNA19240
Known GenesAIFM1
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)nsv3412142
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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