A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3416718



Internal ID19847693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:16183259..16183259hg38UCSC Ensembl
chrX:16201382..16201382hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38608
hg19608
Variant TypeCNV herv insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14804287, nssv14804399, nssv14795696, nssv14793596, nssv14799910, nssv14793235
SamplesCHM13, HG04217, HG02818, HG02059, NA19240, HG00733
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
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3416718
Frequency
Sample Size14
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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