A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14696962



Internal ID19432111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186433273..186433273hg38UCSC Ensembl
chr4:187354427..187354427hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3397715
Supporting Variants
SamplesCHM13
Known GenesF11-AS1
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)nssv14696962
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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