A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14725451



Internal ID19534124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137059139..137059139hg38UCSC Ensembl
chr5:136394828..136394828hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3392815
Supporting Variants
SamplesHG01352
Known GenesSPOCK1
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)nssv14725451
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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