A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3408840



Internal ID19493130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120148001..120171200hg38UCSC Ensembl
chrX:119281907..119305106hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3823200
hg1923200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14796870
SamplesNA19434
Known GenesRHOXF2, RHOXF2B
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)nsv3408840
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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