A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14730143



Internal ID19695668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95504262..95504644hg38UCSC Ensembl
chr5:94839966..94840348hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3396889
Supporting Variants
SamplesNA19240
Known GenesTTC37
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)nssv14730143
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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