A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14488837



Internal ID19603753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494051..112495317hg38UCSC Ensembl
chr1:113036673..113037939hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3319110
Supporting Variants
SamplesHG02818
Known GenesWNT2B
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)nssv14488837
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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