A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14484685



Internal ID19229226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45497763..45497763hg38UCSC Ensembl
chr1:45963435..45963435hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3324383
Supporting Variants
SamplesHG02106
Known GenesCCDC163P
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)nssv14484685
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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