A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3412686



Internal ID19843662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30664039..30664039hg38UCSC Ensembl
chrX:30682156..30682156hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14810710, nssv14796984, nssv14805763, nssv14805648, nssv14808089, nssv14798566
SamplesCHM1, NA12878, HX1, NA19434, HG00733, HG00514
Known GenesGK
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)nsv3412686
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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