A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3366576



Internal ID19797554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239085903..239086095hg38UCSC Ensembl
chr2:240007599..240007791hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14641635, nssv14634275, nssv14637741, nssv14637891, nssv14647688, nssv14644345, nssv14640723
SamplesHG02106, HG04217, HG00268, HG02059, HG01352, NA19434, NA19240
Known GenesHDAC4, MIR4441
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)nsv3366576
Frequency
Sample Size14
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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