A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3399087



Internal ID19830064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:7609164..7609291hg38UCSC Ensembl
chrX:7527205..7527332hg19UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14813552, nssv14812738
SamplesHG02106, HG00514
Known Genes
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
CommentsAbsence of a SVA insertion that is present in the reference
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3399087
Frequency
Sample Size14
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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