A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3418640



Internal ID19849615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:144169301..144187900hg38UCSC Ensembl
chrX:143252407..143271006hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3818600
hg1918600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14805456, nssv14802293
SamplesHG04217, NA19434
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)nsv3418640
Frequency
Sample Size14
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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