A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3367401



Internal ID19451694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113130529..113130700hg38UCSC Ensembl
chr2:113888106..113888277hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14620691, nssv14623519, nssv14622582
SamplesHG00268, NA12878, HG00733
Known GenesIL1RN
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)nsv3367401
Frequency
Sample Size14
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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