A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3418031



Internal ID19849006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:71071575..71071575hg38UCSC Ensembl
chrX:70291425..70291425hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14800913
SamplesCHM1
Known GenesSNX12
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)nsv3418031
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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