A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3320216



Internal ID19751194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1546904..1546904hg38UCSC Ensembl
chr1:1482284..1482284hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14475437, nssv14481849, nssv14474754
SamplesHG02106, HG04217, HG00268
Known GenesSSU72
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)nsv3320216
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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