A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14714052



Internal ID19582481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140419780..140419881hg38UCSC Ensembl
chr5:139799365..139799466hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3392500
Supporting Variants
SamplesHG02106
Known GenesANKHD1, ANKHD1-EIF4EBP3
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)nssv14714052
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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