A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14572780



Internal ID19724717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42597519..42597582hg38UCSC Ensembl
chr17:40749537..40749600hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3347160
Supporting Variants
SamplesNA19434
Known GenesFAM134C
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)nssv14572780
Frequency
Sample Size14
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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