A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3410621



Internal ID19841597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:72681899..72681899hg38UCSC Ensembl
chrX:71901749..71901749hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14794620, nssv14802629, nssv14794389, nssv14800881, nssv14799148, nssv14792261, nssv14809717, nssv14796819, nssv14796104, nssv14803920, nssv14802768
SamplesHG02106, HG04217, CHM1, HG00268, NA12878, HG02818, HX1, NA19434, NA19240, HG00733, HG00514
Known GenesPHKA1
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)nsv3410621
Frequency
Sample Size14
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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