A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3413296



Internal ID19844272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:53967177..53967177hg38UCSC Ensembl
chrX:53993610..53993610hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14810512, nssv14810837, nssv14800956
SamplesCHM13, HG02818, NA19434
Known GenesPHF8
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)nsv3413296
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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