A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3322006



Internal ID19752984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207580168..207580168hg38UCSC Ensembl
chr1:207753513..207753513hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14491727, nssv14481241, nssv14488237
SamplesCHM13, NA12878, HX1
Known GenesCR1
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)nsv3322006
Frequency
Sample Size14
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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