A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3348349



Internal ID19779327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21310721..21310858hg38UCSC Ensembl
chr17:21214033..21214170hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14577555, nssv14581941, nssv14578745
SamplesNA12878, HG01352, HG00514
Known GenesMAP2K3
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)nsv3348349
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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