A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3404653



Internal ID19835629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:27635834..27635834hg38UCSC Ensembl
chrX:27653951..27653951hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14795391, nssv14793185
SamplesCHM13, HG02818
Known Genes
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)nsv3404653
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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