A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14647684



Internal ID19614674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143526105..143526426hg38UCSC Ensembl
chr2:144283674..144283995hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3370213
Supporting Variants
SamplesHG02818
Known GenesARHGAP15
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)nssv14647684
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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