A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3418657



Internal ID19849632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:148547140..148547216hg38UCSC Ensembl
chrX:147628661..147628737hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14802500, nssv14799494, nssv14792259, nssv14800826, nssv14797633, nssv14799224, nssv14795326, nssv14792099
SamplesHG02106, HG04217, HX1, HG02059, HG01352, NA19434, HG00733, HG00514
Known GenesAFF2
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)nsv3418657
Frequency
Sample Size14
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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