A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3355608



Internal ID19786586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44954010..44954010hg38UCSC Ensembl
chr13:45528145..45528145hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14535979
SamplesCHM1
Known GenesNUFIP1
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)nsv3355608
Frequency
Sample Size14
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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