A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3375576



Internal ID19806554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9998460..9998460hg38UCSC Ensembl
chr2:10138588..10138588hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14628803, nssv14629794, nssv14626946, nssv14617411
SamplesHG04217, HG00268, HX1, NA19240
Known GenesGRHL1
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)nsv3375576
Frequency
Sample Size14
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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