A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3415740



Internal ID19846715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68325575..68327819hg38UCSC Ensembl
chrX:67545417..67547661hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14814867, nssv14813812, nssv14814620
SamplesHG02818, NA19434, NA19240
Known GenesOPHN1
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
CommentsAbsence of a SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3415740
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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