A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14804503



Internal ID19380470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:154773930..154773930hg38UCSC Ensembl
chrX:154002205..154002205hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3413097
Supporting Variants
SamplesNA19434
Known GenesDKC1
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)nssv14804503
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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