A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14636272



Internal ID19557839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239068849..239068946hg38UCSC Ensembl
chr2:239990545..239990642hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3374942
Supporting Variants
SamplesHG02059
Known GenesHDAC4, MIR4440
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)nssv14636272
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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