A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3405095



Internal ID19836071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:46730659..46730712hg38UCSC Ensembl
chrX:46590094..46590147hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14800906
SamplesHG02818
Known GenesSLC9A7
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)nsv3405095
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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